30 Matching Annotations
  1. Last 7 days
    1. two cases

      PatientID: None

      KindredID: 2

      Case: M, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: One of the patient’s 3 children, a 25Y female, was found to carry the mutation but was asymptomatic.

      CasePresentingHPOs: HP:0006770; HP:0000107; HP:0001737 (Clear cell renal cell carcinoma, renal cysts, pancreatic cysts)

      CaseHPOFreeText: The patient presented with ccRCC, a renal cyst and a pancreatic nodule. The patient was asymptomatic except for mild hearing loss. The patient is deceased.

      CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, pheochromocytoma)

      CaseNotHPOFreeText: There was no evidence of hemangioblastomas of the brain or spine on MRI. Additionally, there was also no evidence of PCC on biochemical analysis, normal abdominal imaging results were present, and no retinal angiomas were found.

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.-61_-51dup11)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a duplication in the VHL 5’ UTR involving the promoter.

      ClinVarID: 517152, http://www.ncbi.nlm.nih.gov/clinvar/variation/517152

      gnomAD: 0.0002825, https://gnomad.broadinstitute.org/variant/3-10141782-C-CTCCGCCCCGCG?dataset=gnomad_r3

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-61_-51dup11

      MultipleGeneVariants: N/A

    1. PatientID: 177

      KindredID: 69

      Case: F, 53Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The male proband, patient 143, was diagnosed with renal cell carcinoma and multiple pancreatic cysts/tumors at age 33. His mother, who was not confirmed with the mutation, had a CNS hemangioblastoma at 30, retinal angioma at 54, and renal cell carcinoma at 50. His sister had a CNS hemangioblastoma at 28, and renal cell carcinoma/ multiple pancreatic cysts/tumors at 35. His niece, who was not confirmed with the mutation, had a CNS hemangioblastoma at age 12. His aunt had a CNS hemangioblastoma at 37, retinal angioma at 45, and renal cell carcinoma at 53. The son of his aunt was asymptomatic at the time of analysis.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (Hemangioblastoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseHPOFreeText: The proband's aunt presented with a CNS hemangioblastoma at age 37, retinal angioma at age 45, and renal cell carcinoma at age 53.

      CaseNotHPOs: HP:0002666; HP:0001737; HP:0001732 (Pheochromocytoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.C162W (c.486C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223227; https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

    1. frameshift mutations (4/16)

      PatientID: 12

      KindredID: 12

      Case: 32Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Family history unremarkable; Patient was confirmed to have a de novo mutation.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0030424 (hemangioblastoma; retinal capillary hemangioma; renal cyst; epididymal cyst)

      CaseHPOFreeText: Aged 32Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Retinal hemangioblastomas and CNS hemangioblastomas diagnosed at 32Y, renal cysts were also diagnosed at 32Y, while epididymal cysts were diagnosed first at 23Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497423672 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497423672

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: V74Sfs*53 (c.219_232delGGTCATCTTCTGCA)

      MultipleGeneVariants: N/A

    1. Case 3 (intradural tumor of T7 spinal nerve roots), which was first thought to be sporadic (non-familial) in 2001, was then re-classified as “HB-only VHLD” (form fruste of VHLD) after the patient’s sister, aged 53, was diagnosed with cerebellar HB (in the sister a germline point mutation and 2 somatic point mutations were found in the DNA of the cerebellar HB, and the case was included as case HB-25 in another study [28]). To the best of our knowledge, this is the first case of a patient with “HB-only VHLD” having clinical expression outside CNS.

      PatientID: N/A

      KindredID: 3

      Case: F, 53Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24335534 (pt. HGB-25)

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.E55Rfs*12 (c.163delG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

      MultipleGeneVariants: Somatic, VHL, c.375insA (p.Asp126Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

  2. Nov 2026
    1. Disease-associated genetic abnormalities were identified in all of the seven families examined.

      PatientID: father

      KindredID: F

      Case: M, 53Y0M, Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: Family history is said to be positive. Patient’s father had hemangioblastoma of the CNS at 23Y, and pancreatic cysts at 25Y.

      CasePresentingHPOs: HP:0010797; HP:0001737 (hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: Patient had hemangioblastoma of the CNS and pancreatic cysts diagnosed at 53Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145* (c.433C>T)

      LegacyVariant: p.Q145* (c.646C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625249 https://www.ncbi.nlm.nih.gov/clinvar/variation/625249/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q145* (c.433C>T)

      MultipleGeneVariants: N/A

    1. Somatic 1a 1 c.163delG Stop at V66 Known 

      PatientID: HGB-25

      KindredID: 6

      Case: Sex Unknown, 61Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Positive VHL family history.

      CohortInfo: The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29941223

      SupplementalData: N/A

      Variant: p.E55Rfs*12 (c.163delG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:minus_1_frameshift_variant

      CivicName:CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG)

      MultipleGeneVariants: Somatic, VHL, c.375insA (Asn131Ter) Germline, VHL, c.74C>T (p.Pro25Leu)

    1.  Sister 12c.349T > G, p.Trp117Gly–––53––

      PatientID: None

      KindredID: 6

      Case: F, 53Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Positive. The patient's sibling was the proband and had the mutation c.349T>G presenting with renal cell carcinoma, retinal angioma, hemangioblastoma, abnormality of the pancreas, and epididymal or ovarian cystadenoma.The patient's mother, aunt, grandmother, brother 1 and 2, and sister 3 all passed before they could undergo genetic testing but had a variety of VHL presentations. The patient's third nephew were confirmed to have this genetic mutation. The nephew had hemangioblastoma and retinal angioma at age 13. Additional familial phenotypes can be found in Table 1.

      CasePresentingHPOs: HP:0001732 (abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with abnormality of the pancreas at age 53.

      CaseNotHPOs: HP:0002666, HP:0005584, HP:0009711, HP:0010797 (pheochromocytoma, renal cell carcinoma, retinal capillary hemangioma, hemangioblastoma)

      CaseNotHPOFreeText: The patient did not have a cystadenoma of the ovary.

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.W117G (c.349T>G)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 862346 https://www.ncbi.nlm.nih.gov/clinvar/variation/862346/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:W117G (c.349T>G)

      MultipleGeneVariants: N/A

  3. Oct 2026
    1. PatientID: 2

      KindredID: 2

      Case: M, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880; HP:0000107 (Cerebellar hemangioblastoma, Renal cyst)

      CaseHPOFreeText: Cerebellum hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183* (c.548C>A)

      LegacyVariant: c.761C>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2215, https://www.ncbi.nlm.nih.gov/clinvar/variation/2215/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Preoperative hemoglobin: 17.9. Postoperative hemoglobin: 15.1.

      MutationType: stop_gained; missense_variant;transversion

      CivicName: S183* (c.548C>A)

      MultipleGeneVariants: N/A

    1. PatientID: 94

      KindredID: 31

      Case: F, 56Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 31) has a son who has also genetically confirmed with the mutation. The proband's son presented at age 29 with retinal angioma, renal cell carcinoma, multiple pancreatic cysts/tumors, and pheochromocytoma.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0001732 (Hemangioblastoma, Renal cell carcinoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband presented with renal cell carcinoma and multiple pancreatic cysts/tumors at 51, and CNS hemangioblastoma at age 56.

      CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.E94* (c.280G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 584477; https://www.ncbi.nlm.nih.gov/clinvar/variation/584477/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: E94* (c.280G>T)

      MultipleGeneVariants: N/A

    2. PatientID: 224

      KindredID: 83

      Case: M, 53Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The patient had the same germline mutation as his sister (the proband). His sister presented with a pheochromocytoma at age 38. His mother had a CNS hemangioblastoma at 52, but no genotyping information is available for her.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: The patient presented with renal cell carcinoma at age 53.

      CaseNotHPOs: HP:0009711; HP:0001737; HP:0001732; HP:0010797; HP:0002666 (Retinal capillary hemangioma, Pancreatic cysts, Abnormality of the pancreas, Hemangioblastoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

    1. GroupID: 26

      Case: 61Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0006880; HP:0005584 (cerebellar hemangioblastoma; renal cell carcinoma)

      CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 61Y, and RCC diagnosed at 53Y

      CaseNotHPOs: HP:0009711; HP:0002666 (retinal capillary hemangioma; pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.N141Mfs*18 (c.422delA)

      LegacyVariant: p.N141Mfs*18 (c.421delA)

      CaseProblemVariantFreeText: Written in supply. table as c.421delA, this automaps to c.422delA due to redundancy in code

      ClinVarID: N/A

      CAID: CA432421876 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.421delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N141fs (c.422del) 

      MultipleGeneVariants: N/A

    1. 9 M/53 PCC VHL 1 c.208G>A (p.Glu70Lys) Pre-NGS Sanger Bilateral adrenal 3.5 Metastatic Yes Incidental Noradrenergic

      PatientID: 9

      KindredID: 9

      Case: M, 53Y0M, Korean

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598, https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: N/A

      gnomAD: 0.000004365, https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

    1. 16 patients

      PatientID: 10

      KindredID: 10

      Case: Sex Unknown, 55Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had family history of VHL disease. Patient’s son presented with epididymal cystadenoma at age 23 and possessed the same mutation. Patient’s daughter had no clinical manifestations but also had the same VHL mutation.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with multiple pancreatic cysts or tumors and renal cell carcinoma at age 53 and a hemangioblastoma at age 54.

      CaseNotHPOs: HP:0009711, HP:0030424, HP:0002666, HP:0030393 (retinal capillary hemangioma, epididymal cyst, pheochromocytoma, endolymphatic sac tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E94* (c.280G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 584477, https://www.ncbi.nlm.nih.gov/clinvar/variation/584477/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E94* (c.280G>T)

      MultipleGeneVariants: N/A

    1. Case 3 (intradural tumor of T7 spinal nerve roots), which was first thought to be sporadic (non-familial) in 2001, was then re-classified as “HB-only VHLD” (form fruste of VHLD) after the patient’s sister, aged 53, was diagnosed with cerebellar HB (in the sister a germline point mutation and 2 somatic point mutations were found in the DNA of the cerebellar HB, and the case was included as case HB-25 in another study [28]). To the best of our knowledge, this is the first case of a patient with “HB-only VHLD” having clinical expression outside CNS.

      PatientID: N/A

      KindredID: 3

      Case: F, 53Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 24335534 (pt. HGB-25)

      SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

      Variant: p.D126Rfs*6 (c.375_376insA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320316 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320316

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

      MultipleGeneVariants: Somatic, VHL, c.163delG (p.Glu55Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

    1. 2

      PatientID: Unknown

      KindredID: 2

      Case: Sex Unknown, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This is the proband. 5 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: paraganglioma, hemangioblastoma, lung metastases and spinal hemangioblastoma but the presenting patient is unclear.Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 18 years later but it is unclear if this pertained to all affected family members.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

  4. Sep 2026
    1. The proband (K206–2) was 25-years-old

      Case#: 25-year old female, juvenile onset

      DiseaseAssertion: STGD1

      FamilyInfo: Figure 1 shows family pedigree. Table 1 shows clinical features of a Chinese pedigree. Cosegregation analysis was done and shown in Figure 1A, C.

      CasePresentingHPOs: HP:0007663, HP:0007722, HP:0007401, HP:0030329, HP:0030610, HP:0003621, HP:0011507, HP:0007984

      CaseHPOFreeText: The uncorrected visual acuity of each eye was 20/400, which has progressively decreased for 13 years.

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: The retinal vessels were normal.

      Genotyping Method: Whole Exome Sequencing, Sanger Sequencing

      PreviouslyPublished: n/a

      Variant: NM_000350.3(ABCA4):c.3523-2A>G, NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)

      ClinVar: 866764, 377407

      SupplementalData: n/a

  5. Feb 2025
  6. Jan 2025
  7. Jun 2024
  8. Mar 2024
  9. Oct 2023
  10. Mar 2021
    1. 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: 4.7

      AssayResultAssertion: Normal

      StandardErrorMean: 0.1

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 13.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 2.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

  11. Dec 2018
    1. foolish imaginations of his heart

      Constructs which mistake the head as superior to the heart or as an adequate starting place for imaginings will always lead to destruction since the head can not handle nor is it designed for the necessary embedding and recursion which is a seed bearing fruit in itself. But it is sure that, before the brain breaks down and eventually falls/fails, those who mistake it as the best foundation will inevitably turn to mocking them who follow through with flow of spirit through and back to the heart. (see Lehi's Dream 1 Nephi 8:26-27 and Nephi's visitation of the same dream in 1 Nephi 11:35-36)

      This phrase,"foolish imaginations" can and ought to be read as the "FULLish imaginations of his heart." In earlier verses we see that a FULL rendering of Lehi's heart brought about fulfillment on several levels already. This "fulfillment" even took the immediate form of a "filament" (pillar of light which struck a rock in front of Lehi just as the communication struck his heart with overpowering energy). The electrical charging effects of Full Imagining can be transmitted beyond the individual and others can be made to feel these effects, however, unless they are allowed to take hold in the heart where embedding and recursion can take place, then they are short lived and sometimes can have disastrous overall effect upon others who rely on second-hand spirit and external motivation. (see 1 Nephi 3:28-31 and 1 Nephi 17:53-54)

  12. Apr 2018
    1. We provide that there shall be no money votes, unless those votes are introduced in the popular branch of the Legislature on the authority of the responsible advisers of the Crown—those with whom the responsibility rests of equalizing revenue and expenditure—that there can be no expenditure or authorization of expenditure by Address or in any other way unless initiated by the Crown

      §.53 of the Constitution Act, 1867.