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rs80357884

From SNPedia

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


Make rs80357884(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104937
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357884
ebirs80357884
HLIrs80357884
Exacrs80357884
Varsomers80357884
Maprs80357884
PheGenIrs80357884
hapmaprs80357884
1000 genomesrs80357884
hgdprs80357884
ensemblrs80357884
gopubmedrs80357884
geneviewrs80357884
scholarrs80357884
googlers80357884
pharmgkbrs80357884
gwascentralrs80357884
openSNPrs80357884
23andMers80357884
23andMe allrs80357884
SNP Nexus

SNPshotrs80357884
SNPdbers80357884
MSV3drs80357884
GWAS Ctlgrs80357884
Max Magnitude6
rs80357884, also known as 351delA, c.232_232delA and p.Arg78Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357884(;)
Alt rs80357884(;)
Reference rs80357884(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.41256954delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047802.2, RCV000112087.1,