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rs80357502

From SNPedia

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


Make rs80357502(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092551
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357502
ebirs80357502
HLIrs80357502
Exacrs80357502
Varsomers80357502
Maprs80357502
PheGenIrs80357502
hapmaprs80357502
1000 genomesrs80357502
hgdprs80357502
ensemblrs80357502
gopubmedrs80357502
geneviewrs80357502
scholarrs80357502
googlers80357502
pharmgkbrs80357502
gwascentralrs80357502
openSNPrs80357502
23andMers80357502
23andMe allrs80357502
SNP Nexus

SNPshotrs80357502
SNPdbers80357502
MSV3drs80357502
GWAS Ctlgrs80357502
Max Magnitude6
rs80357502, also known as 3099delT, c.2980_2980delT and p.Cys994Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357502(;)
Alt rs80357502(;)
Reference rs80357502(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.41244568delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048029.2, RCV000111974.1,