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rs80359144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs80359144(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379495
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359144
ebirs80359144
HLIrs80359144
Exacrs80359144
Varsomers80359144
Maprs80359144
PheGenIrs80359144
hapmaprs80359144
1000 genomesrs80359144
hgdprs80359144
ensemblrs80359144
gopubmedrs80359144
geneviewrs80359144
scholarrs80359144
googlers80359144
pharmgkbrs80359144
gwascentralrs80359144
openSNPrs80359144
23andMers80359144
23andMe allrs80359144
SNP Nexus

SNPshotrs80359144
SNPdbers80359144
MSV3drs80359144
GWAS Ctlgrs80359144
Max Magnitude6
rs80359144, also known as S2978X, c.8933C>A and p.Ser2978Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359144(A,G;A,G)
Alt rs80359144(A,G;A,G)
Reference rs80359144(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953632C>A; NC_000013.10:g.32953632C>G
CLNSRC ClinVar
CLNACC RCV000045660.2, RCV000114016.2, RCV000077645.2,