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rs80357867

From SNPedia

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


Make rs80357867(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43063350
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357867
ebirs80357867
HLIrs80357867
Exacrs80357867
Varsomers80357867
Maprs80357867
PheGenIrs80357867
hapmaprs80357867
1000 genomesrs80357867
hgdprs80357867
ensemblrs80357867
gopubmedrs80357867
geneviewrs80357867
scholarrs80357867
googlers80357867
pharmgkbrs80357867
gwascentralrs80357867
openSNPrs80357867
23andMers80357867
23andMe allrs80357867
SNP Nexus

SNPshotrs80357867
SNPdbers80357867
MSV3drs80357867
GWAS Ctlgrs80357867
Max Magnitude6
rs80357867, also known as 5292del4, c.5173_5176delGAAA and p.Glu1725_Arg1726?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357867(;)
Alt rs80357867(;)
Reference rs80357867(GAAA;GAAA)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41215363_41215366delTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031225.6, RCV000048843.5, RCV000131829.2, RCV000167855.4,