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rs80357732

From SNPedia

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


Make rs80357732(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057055
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357732
ebirs80357732
HLIrs80357732
Exacrs80357732
Varsomers80357732
Maprs80357732
PheGenIrs80357732
hapmaprs80357732
1000 genomesrs80357732
hgdprs80357732
ensemblrs80357732
gopubmedrs80357732
geneviewrs80357732
scholarrs80357732
googlers80357732
pharmgkbrs80357732
gwascentralrs80357732
openSNPrs80357732
23andMers80357732
23andMe allrs80357732
SNP Nexus

SNPshotrs80357732
SNPdbers80357732
MSV3drs80357732
GWAS Ctlgrs80357732
Max Magnitude6
rs80357732, also known as 5393delA, c.5274_5274delA and p.Arg1758=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357732(;)
Alt rs80357732(;)
Reference rs80357732(A;A)
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.41209072delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048895.2, RCV000112587.1,