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rs80357828

From SNPedia

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


Make rs80357828(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092155
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357828
ebirs80357828
HLIrs80357828
Exacrs80357828
Varsomers80357828
Maprs80357828
PheGenIrs80357828
hapmaprs80357828
1000 genomesrs80357828
hgdprs80357828
ensemblrs80357828
gopubmedrs80357828
geneviewrs80357828
scholarrs80357828
googlers80357828
pharmgkbrs80357828
gwascentralrs80357828
openSNPrs80357828
23andMers80357828
23andMe allrs80357828
SNP Nexus

SNPshotrs80357828
SNPdbers80357828
MSV3drs80357828
GWAS Ctlgrs80357828
Max Magnitude6
rs80357828, also known as 3494delTC, c.3375_3376delTC and p.Ser1125_Pro1126SerIlefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357828(;)
Alt rs80357828(;)
Reference rs80357828(TC;TC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Ovarian cancer
Reversed 1
HGVS NC_000017.10:g.41244172_41244173delGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048170.2, RCV000112082.1, RCV000238746.1,