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rs80357843

From SNPedia

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


Make rs80357843(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092171
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357843
ebirs80357843
HLIrs80357843
Exacrs80357843
Varsomers80357843
Maprs80357843
PheGenIrs80357843
hapmaprs80357843
1000 genomesrs80357843
hgdprs80357843
ensemblrs80357843
gopubmedrs80357843
geneviewrs80357843
scholarrs80357843
googlers80357843
pharmgkbrs80357843
gwascentralrs80357843
openSNPrs80357843
23andMers80357843
23andMe allrs80357843
SNP Nexus

SNPshotrs80357843
SNPdbers80357843
MSV3drs80357843
GWAS Ctlgrs80357843
Max Magnitude6
rs80357843, also known as 3478delTT, c.3359_3360delTT and p.Val1120Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357843(;)
Alt rs80357843(;)
Reference rs80357843(TT;TT)
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.41244188_41244189delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048164.2, RCV000077544.3, RCV000220196.1,