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rs80357859

From SNPedia

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


Make rs80357859(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094327
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357859
ebirs80357859
HLIrs80357859
Exacrs80357859
Varsomers80357859
Maprs80357859
PheGenIrs80357859
hapmaprs80357859
1000 genomesrs80357859
hgdprs80357859
ensemblrs80357859
gopubmedrs80357859
geneviewrs80357859
scholarrs80357859
googlers80357859
pharmgkbrs80357859
gwascentralrs80357859
openSNPrs80357859
23andMers80357859
23andMe allrs80357859
SNP Nexus

SNPshotrs80357859
SNPdbers80357859
MSV3drs80357859
GWAS Ctlgrs80357859
Max Magnitude6
rs80357859, also known as 1323delG, c.1204_1204delG and p.Glu402Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357859(;)
Alt rs80357859(;)
Reference rs80357859(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246344delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047378.3, RCV000111566.1,