- May 2022
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Family Information: not identified
- case mut: f 28-67
- Mutation: c.5438 A> C
- Mutation: c.4267G>T
- PMID (PubMed ID): 33846547
- Inheritance Pattern: Non- inheritance(DNA methylation)
- GeneName: DICER1
- case wt: m&f 0.5-19
- pathogenicity: only 2 of 17 patients died from disease
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Mutation: c.4420A>G
- Mutation: 5428 G>C
- Mutation: c.3580delA
- Zygosity: Some Cases displayed homozygosity
- Mutation: c5113G>A
- Mutation: c.5428G>T
- Variant: Clinvar ID not identified
- Mutation: c.5125G > A
Annotators
URL
-
- Apr 2022
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twitter.com twitter.com
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🇺🇦 Meaghan Kall. (2022, January 27). NEW: 🏴 Vaccine effectiveness (symptomatic infection) data for BA.2 {Omicron’s more infectious sister} NO difference in VE between Omicron (BA.1) and BA.2 Possibly even higher VE for BA.2 but estimates overlap See full thread 🧵 from @freja_kirsebom https://t.co/bJ7uCn2cGV [Tweet]. @kallmemeg. https://twitter.com/kallmemeg/status/1486821549458001927
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twitter.com twitter.com
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Tom Wenseleers. (2022, January 23). @HarrySpoelstra @trvrb @CorneliusRoemer @JosetteSchoenma BA.2 has a growth rate advantage over BA.1 of ca 0.11/day. That’s quite sizeable. If it would have the same short generation time as BA.1 of 2.2 days it would imply a ca.1.3x higher transmissibility, due to higher contagiousness or immune escape. Https://t.co/X8TcWJ4pXQ [Tweet]. @TWenseleers. https://twitter.com/TWenseleers/status/1485375883066101763
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twitter.com twitter.com
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ReconfigBehSci [@SciBeh]. ‘RT @vikkypaedia: B.1.1.529 Seems to Have Gone from 0.1% to 50% in Just a Couple of Weeks, When It Took Delta Several Months to Achieve That…’. Tweet. Twitter, 26 November 2021. https://twitter.com/SciBeh/status/1464194450406752282.
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twitter.com twitter.com
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ReconfigBehSci. (2021, February 9). RT @ChristoPhraser: Our paper on evaluating the first three months of the NHS COVID-19 app is out now as a pre-print. A 🧵 1/n https://t.co/… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1359132102927798275
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- Oct 2021
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www.nature.com www.nature.com
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Barros-Martins, J., Hammerschmidt, S. I., Cossmann, A., Odak, I., Stankov, M. V., Morillas Ramos, G., Dopfer-Jablonka, A., Heidemann, A., Ritter, C., Friedrichsen, M., Schultze-Florey, C., Ravens, I., Willenzon, S., Bubke, A., Ristenpart, J., Janssen, A., Ssebyatika, G., Bernhardt, G., Münch, J., … Behrens, G. M. N. (2021). Immune responses against SARS-CoV-2 variants after heterologous and homologous ChAdOx1 nCoV-19/BNT162b2 vaccination. Nature Medicine, 1–5. https://doi.org/10.1038/s41591-021-01449-9
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- Sep 2021
-
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Do Masks Hurt Speech Development? It Depends on the Child. (2021, September 20). Undark Magazine. https://undark.org/2021/09/20/do-masks-hurt-speech-development-it-depends-on-the-kid/
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- Aug 2021
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www.medrxiv.org www.medrxiv.org
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Nasreen, Sharifa, Hannah Chung, Siyi He, Kevin A. Brown, Jonathan B. Gubbay, Sarah A. Buchan, Deshayne B. Fell, et al. “Effectiveness of COVID-19 Vaccines against Variants of Concern in Ontario, Canada,” July 16, 2021. https://doi.org/10.1101/2021.06.28.21259420.
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www.nejm.org www.nejm.org
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Lopez Bernal, Jamie, Nick Andrews, Charlotte Gower, Eileen Gallagher, Ruth Simmons, Simon Thelwall, Julia Stowe, et al. “Effectiveness of Covid-19 Vaccines against the B.1.617.2 (Delta) Variant.” New England Journal of Medicine 0, no. 0 (July 21, 2021): null. https://doi.org/10.1056/NEJMoa2108891.
-
- Jul 2021
-
www.foxnews.com www.foxnews.com
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Staff, Fox News. “McEnany Encourages People to Get COVID Vaccine: It Reduces Your Risk of Transmitting the Virus.” Text.Article. Fox News. Fox News, July 21, 2021. https://www.foxnews.com/media/mcenany-encourages-people-to-get-covid-vaccine-variant.
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-
www.biorxiv.org www.biorxiv.org
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Tada, Takuya, Hao Zhou, Marie I. Samanovic, Belinda M. Dcosta, Amber Cornelius, Mark J. Mulligan, and Nathaniel R. Landau. “Comparison of Neutralizing Antibody Titers Elicited by MRNA and Adenoviral Vector Vaccine against SARS-CoV-2 Variants.” BioRxiv, July 19, 2021, 2021.07.19.452771. https://doi.org/10.1101/2021.07.19.452771.
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-
www.nejm.org www.nejm.org
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Barouch, Dan H., Kathryn E. Stephenson, Jerald Sadoff, Jingyou Yu, Aiquan Chang, Makda Gebre, Katherine McMahan, et al. “Durable Humoral and Cellular Immune Responses 8 Months after Ad26.COV2.S Vaccination.” New England Journal of Medicine 0, no. 0 (July 14, 2021): null. https://doi.org/10.1056/NEJMc2108829.
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assets.publishing.service.gov.uk assets.publishing.service.gov.uk
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assets.publishing.service.gov.uk assets.publishing.service.gov.uk
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assets.publishing.service.gov.uk assets.publishing.service.gov.uk
-
(2021). Retrieved 2 July 2021, from https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/988458/Weekly_Flu_and_COVID-19_report_w20_v2.pdf
-
- Jun 2021
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osf.io osf.io
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Singh, Urvashi B., Mercy Rophina, Dr Rama Chaudhry, Vigneshwar Senthivel, Kiran Bala, Rahul C. Bhoyar, Bani Jolly, et al. “Variants of Concern Responsible for SARS-CoV-2 Vaccine Breakthrough Infections from India.” OSF Preprints, June 3, 2021. https://doi.org/10.31219/osf.io/fgd4x.
-
-
www.nature.com www.nature.com
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Naveca, Felipe Gomes, Valdinete Nascimento, Victor Costa de Souza, André de Lima Corado, Fernanda Nascimento, George Silva, Ágatha Costa, et al. “COVID-19 in Amazonas, Brazil, Was Driven by the Persistence of Endemic Lineages and P.1 Emergence.” Nature Medicine, May 25, 2021, 1–9. https://doi.org/10.1038/s41591-021-01378-7.
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-
www.thelancet.com www.thelancet.com
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Cirillo, Nicola, and Richard Doan. “Bell’s Palsy and SARS-CoV-2 Vaccines—an Unfolding Story.” The Lancet Infectious Diseases 0, no. 0 (June 7, 2021). https://doi.org/10.1016/S1473-3099(21)00273-5.
-
-
www.nature.com www.nature.com
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Liu, Jianying, Yang Liu, Hongjie Xia, Jing Zou, Scott C. Weaver, Kena A. Swanson, Hui Cai, et al. “BNT162b2-Elicited Neutralization of B.1.617 and Other SARS-CoV-2 Variants.” Nature, June 10, 2021, 1–5. https://doi.org/10.1038/s41586-021-03693-y.
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-
www.medrxiv.org www.medrxiv.org
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Michaelsen, Thomas Y., Marc Bennedbæk, Lasse E. Christiansen, Mia S. F. Jørgensen, Camilla H. Møller, Emil A. Sørensen, Simon Knutsson, et al. “Introduction and Transmission of SARS-CoV-2 B.1.1.7 in Denmark.” MedRxiv, June 7, 2021, 2021.06.04.21258333. https://doi.org/10.1101/2021.06.04.21258333.
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jamanetwork-com.ezproxy.lib.ucalgary.ca jamanetwork-com.ezproxy.lib.ucalgary.ca
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Daniels, Curt J., Saurabh Rajpal, Joel T. Greenshields, Geoffrey L. Rosenthal, Eugene H. Chung, Michael Terrin, Jean Jeudy, et al. “Prevalence of Clinical and Subclinical Myocarditis in Competitive Athletes With Recent SARS-CoV-2 Infection: Results From the Big Ten COVID-19 Cardiac Registry.” JAMA Cardiology, May 27, 2021. https://doi.org/10.1001/jamacardio.2021.2065.
-
- Apr 2021
-
www.imperial.ac.uk www.imperial.ac.uk
-
More transmissible and evasive SARS-CoV-2 variant growing rapidly in Brazil | Imperial News | Imperial College London. (n.d.). Imperial News. Retrieved 18 April 2021, from https://www.imperial.ac.uk/news/216053/more-transmissible-evasive-sarscov2-variant-growing/
-
- Mar 2021
-
jamanetwork.com jamanetwork.com
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Edara, Venkata Viswanadh, William H. Hudson, Xuping Xie, Rafi Ahmed, and Mehul S. Suthar. “Neutralizing Antibodies Against SARS-CoV-2 Variants After Infection and Vaccination.” JAMA, March 19, 2021. https://doi.org/10.1001/jama.2021.4388.
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-
www.lshtm.ac.uk www.lshtm.ac.uk
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The impact of reopening schools on SARS-CoV-2 transmission in England. (n.d.). LSHTM. Retrieved 10 March 2021, from https://www.lshtm.ac.uk/newsevents/news/2021/impact-reopening-schools-sars-cov-2-transmission-england
-
-
github.com github.com
-
BDI-pathogens/covid-19_instant_tracing. (n.d.). GitHub. Retrieved 13 February 2021, from https://github.com/BDI-pathogens/covid-19_instant_tracing
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-
twitter.com twitter.com
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David R Tomlinson 💙. (2021, March 5). Truth. 💙 @FreshAirNHS @theRCN @TheBMA @mancunianmedic @DrLindaDykes @Chakladar_A @KGadhok https://t.co/Ke2C84KuaT https://t.co/C469qvrSoK [Tweet]. @DRTomlinsonEP. https://twitter.com/DRTomlinsonEP/status/1367962251211202566
Tags
- care homes
- misleading
- advisory bodies
- infections
- DHSC
- government
- misinformation
- lang:en
- SARS-CoV-2
- respiratory protection
- respiratory conditions
- ethical guidelines
- guidance
- PHE
- PPE
- variant
- transmission
- is:tweet
- COVID-19
- health and care workers
- policy contexts
- scientists
- economic issues
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 1.5
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
-
WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: <1
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
-
WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 1
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
-
WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 3
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.3
AssayResultAssertion: Normal
StandardErrorMean: 0.46
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.1010T>C p.(Leu337Ser)
Tags
- ClinVarID:216752
- FuncAssay:1
- ClinVarID:657328
- Variant:4
- ClinVarID:187262
- Variant:85
- ClinVarID:230588
- CG:BulkAnnotation
- ValidationControl:Benign
- CGType:FunctionalAssayResult
- CAID:CA10580054
- Variant:42
- CAID:CA151212
- Variant:56
- CAID:CA339433
- CGType:Variant
- FuncAssay:2
- Variant:2
- CAID:CA197176
- ClinVarID:126582
- CAID:CA279502031
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
SUPPLEMENTARY DATA
AssayResult: 38
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: -34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -11
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -4
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -14
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -56
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -6
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -25
AssayResultAssertion: Abnormal
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -31
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -16
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -10
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -21
AssayResultAssertion: Indeterminate
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -20
AssayResultAssertion: Indeterminate
PValue: < 0.05
-
SUPPLEMENTARY DATA
AssayResult: 8
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -29
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -98
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -36
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 3
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -32
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 85.76
AssayResultAssertion: Indeterminate
PValue: 0.0445
Comment: Exact values reported in Table S3.
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.110G>A p.(Arg37His)
Tags
- Variant:45
- CAID:CA269666
- ValidationControl:Pathogenic
- CG:BulkAnnotation
- Variant:10
- Variant:4
- ClinVarID:232977
- Variant:22
- CAID:CA269636
- CAID:CA299799
- CAID:CA269654
- ClinVarID:126716
- FuncAssay:3
- Variant:24
- CAID:CA151233
- CAID:CA161315
- Variant:15
- Variant:32
- ClinVarID:241553
- CGType:Variant
- CAID:CA186642
- FuncAssay:2
- ClinVarID:126669
- ClinVarID:183828
- CAID:CA151236
- ClinVarID:657666
- Variant:27
- CAID:CA288386
- CAID:CA279502031
- CAID:CA395144524
- Variant:18
- Variant:31
- Variant:8
- ClinVarID:126652
- ClinVarID:126699
- ClinVarID:126758
- FuncAssay:1
- ClinVarID:657328
- ValidationControl:Benign
- Variant:1
- CAID:CA331796
- ClinVarID:126755
- ClinVarID:126682
- CGType:FunctionalAssayResult
- ClinVarID:126590
- CAID:CA168501
- Variant:37
- CAID:CA10579934
- ClinVarID:182774
- ClinVarID:126774
- ClinVarID:126738
- CAID:CA7963465
- CAID:CA151242
- Variant:41
- Variant:14
- Variant:2
- Variant:11
- Variant:38
- ClinVarID:126782
- CAID:CA299750
- CAID:CA395139336
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Source Data
AssayResult: 26.03
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 24.27
AssayResultAssertion: Abnormal
ReplicateCount: Not reported
StandardErrorMean: Not reported
Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.
-
Source Data
AssayResult: 96.22
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.7
Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
-
Source Data
AssayResult: 15.23
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 6.42
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.
-
Source Data
AssayResult: 52.23
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.33
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as I1037R.
-
Source Data
AssayResult: 74.36
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.89
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.27
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.3
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.22
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 21.7
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 55.4
AssayResultAssertion: Not reported
ReplicateCount: 4
StandardErrorMean: 13.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 17.5
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 7.75
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.7
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 12.82
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 94.47
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.99
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 13.87
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.32
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 93.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 2.24
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 9.67
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.31
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 109.07
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.27
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 98.64
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.5
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.88
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 20.71
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 16.6
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 4.35
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 103.21
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.98
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 108.27
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 16.12
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 98.43
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 14.96
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.57
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 11.51
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 103.83
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 3.67
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.51
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 4.4
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 56.67
AssayResultAssertion: Not reported
ReplicateCount: 4
StandardErrorMean: 12.4
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 85.13
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 15.04
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 108.56
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 19.59
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 10.42
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 0.01
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 99.69
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 3.09
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 12.35
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.48
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 14.79
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 7.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 84.41
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.42
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 25.09
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 3.48
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.37
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.14
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 12.77
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 5.34
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 78.91
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.86
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 8.41
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.95
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 24.31
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 5.23
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 14.78
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 9.34
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 81.17
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.32
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 91.11
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 17.74
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 26.39
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.11
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 94.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 19.94
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 86.26
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 4.22
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.73
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 2.25
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 29.04
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 7.24
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 115.45
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 78.3
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.75
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 86.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.96
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.96
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 10.31
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 78.2
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.31
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 103.53
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 19.46
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.75
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 64.92
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 8.7
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 11.06
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 2.4
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 117.58
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 10.68
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 0.32
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 23.96
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 7.6
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 120.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.09
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 74.18
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.49
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.74
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 14.87
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 83.96
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.89
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 94.84
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 20.56
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 17.43
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 5.19
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 108.51
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 17.71
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 67.82
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 10.97
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 72.7
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 9.73
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 9.68
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 3.44
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 115.71
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 3.09
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 11.28
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.24
StandardErrorMean: 0.87
Comment: Exact values reported in “Source Data” file.
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.104T>C p.(L35P)
Tags
- Variant:9
- Variant:10
- Variant:43
- ClinVarID:530038
- ClinVarID:126607
- ClinVarID:232977
- ClinVarID:182790
- CAID:CA395142764
- ClinVarID:420826
- ClinVarID:142468
- CAID:CA269654
- FuncAssay:3
- ClinVarID:229718
- CAID:CA161315
- Variant:15
- CAID:CA195974
- Variant:32
- ClinVarID:241553
- CGType:Variant
- CAID:CA151239
- CAID:CA288398
- CAID:CA196291
- CAID:CA269492
- Variant:55
- ClinVarID:126582
- Variant:27
- ClinVarID:1243
- ClinVarID:126683
- CAID:CA279502031
- Variant:53
- Variant:18
- ClinVarID:185518
- Variant:8
- ClinVarID:126699
- ClinVarID:126758
- CAID:CA161342
- ClinVarID:182741
- ClinVarID:186824
- Variant:1
- ClinVarID:186840
- Variant:64
- Variant:57
- ClinVarID:126590
- CAID:CA269551
- ClinVarID:126711
- CAID:CA10579934
- CAID:CA151212
- ClinVarID:126670
- Variant:50
- CAID:CA279530867
- CAID:CA339433
- CAID:CA151242
- Variant:14
- CAID:CA163622
- Variant:38
- CAID:CA923726356
- Variant:67
- CAID:CA395139673
- Variant:47
- ClinVarID:126594
- Variant:45
- ClinVarID:186939
- CAID:CA192169
- CAID:CA395141474
- Variant:33
- CAID:CA395145110
- ClinVarID:126761
- ClinVarID:126600
- Variant:69
- CAID:CA161333
- Variant:21
- CAID:CA151233
- Variant:56
- Variant:6
- ClinVarID:126669
- ClinVarID:126706
- CAID:CA10579985
- CAID:CA151230
- CAID:CA161327
- FuncAssay:1
- ClinVarID:657328
- ValidationControl:Benign
- ClinVarID:142079
- CAID:CA331796
- CAID:CA196017
- CAID:CA395141313
- CAID:CA299747
- CGType:FunctionalAssayResult
- CAID:CA10580054
- CAID:CA151229
- Variant:63
- CAID:CA251004
- CAID:CA395139401
- ClinVarID:126774
- ClinVarID:126749
- ClinVarID:126738
- CAID:CA7963465
- Variant:41
- CAID:CA164468
- CAID:CA494163316
- ClinVarID:126630
- ClinVarID:460996
- Variant:52
- ValidationControl:Pathogenic
- ClinVarID:216752
- Variant:4
- Variant:19
- ClinVarID:126613
- CAID:CA7963653
- CAID:CA395144862
- CAID:CA299784
- CAID:CA658658444
- ClinVarID:484164
- Variant:48
- ClinVarID:1245
- ClinVarID:182786
- ClinVarID:461007
- ClinVarID:182773
- ClinVarID:546043
- CAID:CA251717
- CAID:CA167348
- CAID:CA288386
- Variant:16
- CAID:CA151222
- CAID:CA395137855
- ClinVarID:230588
- Variant:61
- Variant:35
- Variant:30
- Variant:29
- Variant:59
- Variant:20
- Variant:44
- CAID:CA163908
- CAID:CA395144208
- CAID:CA185966
- CAID:CA395122261
- CAID:CA279524947
- Variant:7
- ClinVarID:484186
- Variant:11
- CAID:CA395137656
- CAID:CA151250
- CAID:CA197176
- Variant:28
- Variant:39
- ClinVarID:134994
- Variant:70
- ClinVarID:128136
- Variant:54
- CAID:CA299663
- CG:BulkAnnotation
- ClinVarID:187262
- CAID:CA395144928
- Variant:13
- Variant:26
- Variant:62
- ClinVarID:126740
- Variant:22
- Variant:66
- Variant:65
- ClinVarID:484219
- ClinVarID:126747
- CAID:CA395137985
- Variant:42
- CAID:CA210470
- Variant:24
- CAID:CA395125757
- Variant:17
- Variant:12
- ClinVarID:126623
- FuncAssay:2
- Variant:34
- CAID:CA350039
- ClinVarID:567901
- CAID:CA288478
- ClinVarID:922719
- Variant:51
- CAID:CA395121845
- CAID:CA16621924
- Variant:3
- ClinVarID:1246
- Variant:31
- Variant:46
- Variant:36
- CAID:CA250432
- ClinVarID:126595
- Variant:5
- Variant:58
- CAID:CA16620118
- Variant:25
- ClinVarID:126609
- Variant:37
- Variant:60
- CAID:CA294562
- Variant:49
- Variant:23
- CAID:CA294407
- Variant:2
- Variant:40
- CAID:CA395141224
- CAID:CA269625
- Variant:68
- ClinVarID:219647
Annotators
URL
-
-
www.cell.com www.cell.com
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 113.2
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 13.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1038G>T p.(Glu346Asp)
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 80
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 69
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 77
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 104
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 56
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 61
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 51
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 66
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 60
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 65
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 66
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 45
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 58
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 49
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 97
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM000546.5:c.(?-202)(*1207?)del p.?
Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.
Tags
- ValidationControl:Pathogenic
- CAID:CA000106
- ClinVarID:100815
- Variant:9
- CAID:CA645369686
- Variant:43
- Variant:19
- CAID:CA645588993
- ClinVarID:12366
- CAID:CA1139768487
- ClinVarID:12379
- ClinVarID:142702
- ClinVarID:376613
- ClinVarID:428860
- Variant:32
- CGType:Variant
- ClinVarID:12374
- CAID:CA16603074
- CAID:CA000013
- Variant:27
- CAID:CA397836336
- CAID:CA497716198
- ClinVarID:458555
- Variant:29
- Variant:30
- ClinVarID:12347
- Variant:44
- CAID:CA497925664
- CAID:CA000308
- ClinVarID:376649
- CAID:CA000251
- CAID:CA397837761
- Variant:50
- CAID:CA000256
- Variant:14
- Variant:11
- Variant:38
- CAID:CA000493
- Variant:28
- Variant:47
- Variant:39
- CAID:CA000382
- ClinVarID:420137
- CAID:CA16603066
- Variant:13
- ClinVarID:634779
- Variant:33
- CAID:CA16603033
- Variant:22
- CAID:CA397844631
- CAID:CA645588668
- Variant:21
- Variant:24
- CAID:CA000073
- FuncAssay:2
- Variant:34
- CAID:CA000374
- ClinVarID:41723
- Variant:51
- ClinVarID:12356
- ClinVarID:127815
- CAID:CA000468
- Variant:3
- ClinVarID:376612
- Variant:5
- Variant:31
- Variant:46
- FuncAssay:1
- CAID:CA000387
- CAID:CA397839547
- ClinVarID:135359
- CAID:CA000434
- CGType:FunctionalAssayResult
- Variant:37
- ClinVarID:182957
- Variant:49
- ClinVarID:12364
- ClinVarID:182965
- Variant:23
- Variant:2
- Variant:40
- CAID:CA000454
- ClinVarID:376659
- CAID:CA000302
- CAID:CA16603034
- ClinVarID:127825
- CAID:CA16620623
Annotators
URL
-
- Jan 2021
-
-
This variant presents 14 non-synonymous mutations, 6 synonymous mutations and 3 deletions. The multiple mutations present in the viral RNA encoding for the spike protein (S) are of most concern, such as the deletion Δ69-70, deletion Δ144, N501Y, A570D, D614G, P681H, T716I, S982A, D1118H
-
-
medrxiv.org medrxiv.org
-
What would be the limit of detection of the new variants in the wastewater by this NGS based sequencing method?
-
- Jan 2020
-
www.sciencedirect.com www.sciencedirect.com
- Dec 2019
-
www.sciencedirect.com www.sciencedirect.com
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/
-
-
www.sciencedirect.com www.sciencedirect.com
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/
-