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rs80357068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357068(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094338
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357068
ebirs80357068
HLIrs80357068
Exacrs80357068
Varsomers80357068
Maprs80357068
PheGenIrs80357068
hapmaprs80357068
1000 genomesrs80357068
hgdprs80357068
ensemblrs80357068
gopubmedrs80357068
geneviewrs80357068
scholarrs80357068
googlers80357068
pharmgkbrs80357068
gwascentralrs80357068
openSNPrs80357068
23andMers80357068
23andMe allrs80357068
SNP Nexus

SNPshotrs80357068
SNPdbers80357068
MSV3drs80357068
GWAS Ctlgrs80357068
Max Magnitude6
rs80357068, also known as S398X, c.1193C>G and p.Ser398Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357068(A,G,T;A,G,T)
Alt rs80357068(A,G,T;A,G,T)
Reference rs80357068(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246355G>C; NC_000017.10:g.41246355G>T
CLNSRC ClinVar
CLNACC RCV000047376.2, RCV000111564.1, RCV000047375.2,