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rs80357658

From SNPedia

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


Make rs80357658(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093044
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357658
ebirs80357658
HLIrs80357658
Exacrs80357658
Varsomers80357658
Maprs80357658
PheGenIrs80357658
hapmaprs80357658
1000 genomesrs80357658
hgdprs80357658
ensemblrs80357658
gopubmedrs80357658
geneviewrs80357658
scholarrs80357658
googlers80357658
pharmgkbrs80357658
gwascentralrs80357658
openSNPrs80357658
23andMers80357658
23andMe allrs80357658
SNP Nexus

SNPshotrs80357658
SNPdbers80357658
MSV3drs80357658
GWAS Ctlgrs80357658
Max Magnitude6
rs80357658, also known as 2606delT, c.2487_2487delT and p.Phe829Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357658(;)
Alt rs80357658(;)
Reference rs80357658(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.41245061delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047859.2, RCV000111879.1,