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rs80357509

From SNPedia

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


Make rs80357509(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092046
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357509
ebirs80357509
HLIrs80357509
Exacrs80357509
Varsomers80357509
Maprs80357509
PheGenIrs80357509
hapmaprs80357509
1000 genomesrs80357509
hgdprs80357509
ensemblrs80357509
gopubmedrs80357509
geneviewrs80357509
scholarrs80357509
googlers80357509
pharmgkbrs80357509
gwascentralrs80357509
openSNPrs80357509
23andMers80357509
23andMe allrs80357509
SNP Nexus

SNPshotrs80357509
SNPdbers80357509
MSV3drs80357509
GWAS Ctlgrs80357509
Max Magnitude6
rs80357509, also known as 3604delA, c.3485_3485delA and p.Asp1162Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357509(;)
Alt rs80357509(;)
Reference rs80357509(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244063delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031112.5, RCV000048213.4, RCV000159918.2, RCV000220121.1,