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rs80357915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357915(-;-)
Make rs80357915(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074394
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357915
ebirs80357915
HLIrs80357915
Exacrs80357915
Varsomers80357915
Maprs80357915
PheGenIrs80357915
hapmaprs80357915
1000 genomesrs80357915
hgdprs80357915
ensemblrs80357915
gopubmedrs80357915
geneviewrs80357915
scholarrs80357915
googlers80357915
pharmgkbrs80357915
gwascentralrs80357915
openSNPrs80357915
23andMers80357915
23andMe allrs80357915
SNP Nexus

SNPshotrs80357915
SNPdbers80357915
MSV3drs80357915
GWAS Ctlgrs80357915
Max Magnitude6
rs80357915, also known as 4730insG, c.4611_4612insG and p.Gln1537_Gln1538?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357915(G;G)
Alt rs80357915(G;G)
Reference rs80357915(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41226411_41226412insC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048605.3, RCV000112364.1, RCV000131883.2,