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

rs80357879

From SNPedia

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


Make rs80357879(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094148
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357879
ebirs80357879
HLIrs80357879
Exacrs80357879
Varsomers80357879
Maprs80357879
PheGenIrs80357879
hapmaprs80357879
1000 genomesrs80357879
hgdprs80357879
ensemblrs80357879
gopubmedrs80357879
geneviewrs80357879
scholarrs80357879
googlers80357879
pharmgkbrs80357879
gwascentralrs80357879
openSNPrs80357879
23andMers80357879
23andMe allrs80357879
SNP Nexus

SNPshotrs80357879
SNPdbers80357879
MSV3drs80357879
GWAS Ctlgrs80357879
Max Magnitude6
rs80357879, also known as 1502delT, c.1383_1383delT and p.Phe461Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357879(;)
Alt rs80357879(;)
Reference rs80357879(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.41246165delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047450.2, RCV000111601.1,