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

rs80357643

From SNPedia

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


Make rs80357643(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093570
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357643
ClinGenrs80357643
ebirs80357643
HLIrs80357643
Exacrs80357643
Varsomers80357643
Maprs80357643
PheGenIrs80357643
hapmaprs80357643
1000 genomesrs80357643
hgdprs80357643
ensemblrs80357643
gopubmedrs80357643
geneviewrs80357643
scholarrs80357643
googlers80357643
pharmgkbrs80357643
gwascentralrs80357643
openSNPrs80357643
23andMers80357643
23andMe allrs80357643
SNP Nexus

SNPshotrs80357643
SNPdbers80357643
MSV3drs80357643
GWAS Ctlgrs80357643
Max Magnitude6
rs80357643, also known as 2079delAA, c.1960_1961delAA and p.Lys654Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357643(-;-)
Alt rs80357643(-;-)
Reference Rs80357643(AA;AA)
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.41245587_41245588delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047659.2, RCV000111740.2,