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rs80357966

From SNPedia

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


Make rs80357966(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092198
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357966
ebirs80357966
HLIrs80357966
Exacrs80357966
Varsomers80357966
Maprs80357966
PheGenIrs80357966
hapmaprs80357966
1000 genomesrs80357966
hgdprs80357966
ensemblrs80357966
gopubmedrs80357966
geneviewrs80357966
scholarrs80357966
googlers80357966
pharmgkbrs80357966
gwascentralrs80357966
openSNPrs80357966
23andMers80357966
23andMe allrs80357966
SNP Nexus

SNPshotrs80357966
SNPdbers80357966
MSV3drs80357966
GWAS Ctlgrs80357966
Max Magnitude6
rs80357966, also known as 3452delA, c.3333_3333delA and p.Gln1111=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357966(;)
Alt rs80357966(;)
Reference rs80357966(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244215delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048153.2, RCV000112071.1, RCV000222426.1,