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rs80357525

From SNPedia

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


Make rs80357525(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092201
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357525
ebirs80357525
HLIrs80357525
Exacrs80357525
Varsomers80357525
Maprs80357525
PheGenIrs80357525
hapmaprs80357525
1000 genomesrs80357525
hgdprs80357525
ensemblrs80357525
gopubmedrs80357525
geneviewrs80357525
scholarrs80357525
googlers80357525
pharmgkbrs80357525
gwascentralrs80357525
openSNPrs80357525
23andMers80357525
23andMe allrs80357525
SNP Nexus

SNPshotrs80357525
SNPdbers80357525
MSV3drs80357525
GWAS Ctlgrs80357525
Max Magnitude6
rs80357525, also known as 3448delAG, c.3329_3330delAG and p.Lys1110Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357525(;)
Alt rs80357525(;)
Reference rs80357525(AG;AG)
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.41244218_41244219delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048146.2, RCV000077542.3,