Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357895

From SNPedia

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


Make rs80357895(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063369
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357895
ebirs80357895
HLIrs80357895
Exacrs80357895
Varsomers80357895
Maprs80357895
PheGenIrs80357895
hapmaprs80357895
1000 genomesrs80357895
hgdprs80357895
ensemblrs80357895
gopubmedrs80357895
geneviewrs80357895
scholarrs80357895
googlers80357895
pharmgkbrs80357895
gwascentralrs80357895
openSNPrs80357895
23andMers80357895
23andMe allrs80357895
SNP Nexus

SNPshotrs80357895
SNPdbers80357895
MSV3drs80357895
GWAS Ctlgrs80357895
Max Magnitude6
rs80357895, also known as 5275delTG, c.5156_5157delTG and p.Val1719Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357895(;)
Alt rs80357895(;)
Reference rs80357895(TG;TG)
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.41215386_41215387delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048835.2, RCV000112541.1,