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rs80357513

From SNPedia

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


Make rs80357513(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092883
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357513
ebirs80357513
HLIrs80357513
Exacrs80357513
Varsomers80357513
Maprs80357513
PheGenIrs80357513
hapmaprs80357513
1000 genomesrs80357513
hgdprs80357513
ensemblrs80357513
gopubmedrs80357513
geneviewrs80357513
scholarrs80357513
googlers80357513
pharmgkbrs80357513
gwascentralrs80357513
openSNPrs80357513
23andMers80357513
23andMe allrs80357513
SNP Nexus

SNPshotrs80357513
SNPdbers80357513
MSV3drs80357513
GWAS Ctlgrs80357513
Max Magnitude6
rs80357513, also known as 2765delTGC, c.2646_2648delTGC and p.Cys882_Ala883?, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357513(;)
Alt rs80357513(;)
Reference rs80357513(TGC;TGC)
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.41244900_41244902delGCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047909.2, RCV000083187.3,