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rs80357762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357762(-;-)
Make rs80357762(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099827
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357762
ebirs80357762
HLIrs80357762
Exacrs80357762
Varsomers80357762
Maprs80357762
PheGenIrs80357762
hapmaprs80357762
1000 genomesrs80357762
hgdprs80357762
ensemblrs80357762
gopubmedrs80357762
geneviewrs80357762
scholarrs80357762
googlers80357762
pharmgkbrs80357762
gwascentralrs80357762
openSNPrs80357762
23andMers80357762
23andMe allrs80357762
SNP Nexus

SNPshotrs80357762
SNPdbers80357762
MSV3drs80357762
GWAS Ctlgrs80357762
Max Magnitude6
rs80357762, also known as 613insT, c.494_495insT and p.Leu165?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357762(T;T)
Alt rs80357762(T;T)
Reference rs80357762(;)
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.41251845dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048706.2, RCV000112720.1, RCV000220672.1,