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

rs80357708

From SNPedia

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


Make rs80357708(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099836
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357708
ebirs80357708
HLIrs80357708
Exacrs80357708
Varsomers80357708
Maprs80357708
PheGenIrs80357708
hapmaprs80357708
1000 genomesrs80357708
hgdprs80357708
ensemblrs80357708
gopubmedrs80357708
geneviewrs80357708
scholarrs80357708
googlers80357708
pharmgkbrs80357708
gwascentralrs80357708
openSNPrs80357708
23andMers80357708
23andMe allrs80357708
SNP Nexus

SNPshotrs80357708
SNPdbers80357708
MSV3drs80357708
GWAS Ctlgrs80357708
Max Magnitude6
rs80357708, also known as 604delTG, c.485_486delTG and p.Val162Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357708(;)
Alt rs80357708(;)
Reference rs80357708(TG;TG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41251853_41251854delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048679.2, RCV000077588.3, RCV000162880.1,