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rs80358623

From SNPedia

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


Make rs80358623(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338167
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358623
ebirs80358623
HLIrs80358623
Exacrs80358623
Varsomers80358623
Maprs80358623
PheGenIrs80358623
hapmaprs80358623
1000 genomesrs80358623
hgdprs80358623
ensemblrs80358623
gopubmedrs80358623
geneviewrs80358623
scholarrs80358623
googlers80358623
pharmgkbrs80358623
gwascentralrs80358623
openSNPrs80358623
23andMers80358623
23andMe allrs80358623
SNP Nexus

SNPshotrs80358623
SNPdbers80358623
MSV3drs80358623
GWAS Ctlgrs80358623
Max Magnitude6
rs80358623, also known as S1271X, c.3812C>A and p.Ser1271Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358623(A;A)
Alt rs80358623(A;A)
Reference rs80358623(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.32912304C>A
CLNSRC ClinVar
CLNACC RCV000044270.2, RCV000113222.1,