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

rs80357804

From SNPedia

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


Make rs80357804(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091012
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357804
ebirs80357804
HLIrs80357804
Exacrs80357804
Varsomers80357804
Maprs80357804
PheGenIrs80357804
hapmaprs80357804
1000 genomesrs80357804
hgdprs80357804
ensemblrs80357804
gopubmedrs80357804
geneviewrs80357804
scholarrs80357804
googlers80357804
pharmgkbrs80357804
gwascentralrs80357804
openSNPrs80357804
23andMers80357804
23andMe allrs80357804
SNP Nexus

SNPshotrs80357804
SNPdbers80357804
MSV3drs80357804
GWAS Ctlgrs80357804
Max Magnitude6
rs80357804, also known as 4235delTG, c.4116_4117delTG and p.Cys1372_Glu1373TerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357804(;)
Alt rs80357804(;)
Reference rs80357804(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.41243029_41243030delCA
CLNSRC ClinVar
CLNACC RCV000048448.2, RCV000112264.1,