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rs62625303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs62625303(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094060
GeneBRCA1
is asnp
is mentioned by
dbSNPrs62625303
ebirs62625303
HLIrs62625303
Exacrs62625303
Varsomers62625303
Maprs62625303
PheGenIrs62625303
hapmaprs62625303
1000 genomesrs62625303
hgdprs62625303
ensemblrs62625303
gopubmedrs62625303
geneviewrs62625303
scholarrs62625303
googlers62625303
pharmgkbrs62625303
gwascentralrs62625303
openSNPrs62625303
23andMers62625303
23andMe allrs62625303
SNP Nexus

SNPshotrs62625303
SNPdbers62625303
MSV3drs62625303
GWAS Ctlgrs62625303
Max Magnitude6
rs62625303, also known as Q491X, c.1471C>T and p.Gln491Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs62625303(T;T)
Alt rs62625303(T;T)
Reference rs62625303(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246077G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047488.2, RCV000111626.3, RCV000131842.2,