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rs80357683

From SNPedia

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


Make rs80357683(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094212
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357683
ebirs80357683
HLIrs80357683
Exacrs80357683
Varsomers80357683
Maprs80357683
PheGenIrs80357683
hapmaprs80357683
1000 genomesrs80357683
hgdprs80357683
ensemblrs80357683
gopubmedrs80357683
geneviewrs80357683
scholarrs80357683
googlers80357683
pharmgkbrs80357683
gwascentralrs80357683
openSNPrs80357683
23andMers80357683
23andMe allrs80357683
SNP Nexus

SNPshotrs80357683
SNPdbers80357683
MSV3drs80357683
GWAS Ctlgrs80357683
Max Magnitude6
rs80357683, also known as 1438delT, c.1319_1319delT and p.Leu440Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357683(;)
Alt rs80357683(;)
Reference rs80357683(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246229delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047415.2, RCV000111588.1,