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rs80357813

From SNPedia

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


Make rs80357813(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074431
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357813
ebirs80357813
HLIrs80357813
Exacrs80357813
Varsomers80357813
Maprs80357813
PheGenIrs80357813
hapmaprs80357813
1000 genomesrs80357813
hgdprs80357813
ensemblrs80357813
gopubmedrs80357813
geneviewrs80357813
scholarrs80357813
googlers80357813
pharmgkbrs80357813
gwascentralrs80357813
openSNPrs80357813
23andMers80357813
23andMe allrs80357813
SNP Nexus

SNPshotrs80357813
SNPdbers80357813
MSV3drs80357813
GWAS Ctlgrs80357813
Max Magnitude6
rs80357813, also known as 4693delAA, c.4574_4575delAA and p.Gln1525Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357813(;)
Alt rs80357813(;)
Reference rs80357813(AA;AA)
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.41226448_41226449delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048595.2, RCV000077576.5, RCV000216673.1,