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rs80357440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80357440(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091638
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357440
ebirs80357440
HLIrs80357440
Exacrs80357440
Varsomers80357440
Maprs80357440
PheGenIrs80357440
hapmaprs80357440
1000 genomesrs80357440
hgdprs80357440
ensemblrs80357440
gopubmedrs80357440
geneviewrs80357440
scholarrs80357440
googlers80357440
pharmgkbrs80357440
gwascentralrs80357440
openSNPrs80357440
23andMers80357440
23andMe allrs80357440
SNP Nexus

SNPshotrs80357440
SNPdbers80357440
MSV3drs80357440
GWAS Ctlgrs80357440
Max Magnitude6
rs80357440, also known as S1298X, c.3893C>A and p.Ser1298Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357440(A,G,T;A,G,T)
Alt rs80357440(A,G,T;A,G,T)
Reference rs80357440(C;C)
Significance Pathogenic
Disease not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41243655G>A; NC_000017.10:g.41243655G>C; NC_000017.10:g.41243655G>T
CLNSRC ClinVar
CLNACC RCV000235595.1, RCV000228438.1, RCV000048369.4, RCV000077557.3, RCV000162869.1, RCV000212178.1,