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rs80357948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357948(-;-)
Make rs80357948(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092918
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357948
ebirs80357948
HLIrs80357948
Exacrs80357948
Varsomers80357948
Maprs80357948
PheGenIrs80357948
hapmaprs80357948
1000 genomesrs80357948
hgdprs80357948
ensemblrs80357948
gopubmedrs80357948
geneviewrs80357948
scholarrs80357948
googlers80357948
pharmgkbrs80357948
gwascentralrs80357948
openSNPrs80357948
23andMers80357948
23andMe allrs80357948
SNP Nexus

SNPshotrs80357948
SNPdbers80357948
MSV3drs80357948
GWAS Ctlgrs80357948
Max Magnitude6
rs80357948, also known as 2731insT, c.2612_2613insT and p.Pro871?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357948(CG,TG;CG,TG)
Alt rs80357948(CG,TG;CG,TG)
Reference rs80357948(G;G)
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.41244935_41244936insA; NC_000017.10:g.41244936dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047900.2, RCV000111904.1, RCV000047902.2,