HUMU-36-513-s001.zip (35M)GUID: 06D923F1-8EE7-4CA8-96C3-FB1A004ACCF5
Variant not found in the supplemental data even though Mastermind says it is in S002.
3 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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S2 Table: Information on 417 mutations associated with the severe form of lethal, recessive Mendelian diseases. (XLSX)pgen.1006915.s002.xlsx (61K)GUID: 68172932-AFF0-4FB9-A3EA-3B8A4268D8EC
This variant was said to be in table S2 per Mastermind, but it is actually T364M.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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c.1091C>A
Case#: Functional assay variant with a clinical significance of being a VUS.
DiseaseAssertion: MPS-I
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.1091C>A (p.T364K)
Variant1ClinVarID: 2961353
Variant1CAID: CA355963315
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
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