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rs80357979

From SNPedia

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


Make rs80357979(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091565
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357979
ebirs80357979
HLIrs80357979
Exacrs80357979
Varsomers80357979
Maprs80357979
PheGenIrs80357979
hapmaprs80357979
1000 genomesrs80357979
hgdprs80357979
ensemblrs80357979
gopubmedrs80357979
geneviewrs80357979
scholarrs80357979
googlers80357979
pharmgkbrs80357979
gwascentralrs80357979
openSNPrs80357979
23andMers80357979
23andMe allrs80357979
SNP Nexus

SNPshotrs80357979
SNPdbers80357979
MSV3drs80357979
GWAS Ctlgrs80357979
Max Magnitude6
rs80357979, also known as 4085delA, c.3966_3966delA and p.Lys1322Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357979(;)
Alt rs80357979(;)
Reference rs80357979(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.41243582delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048392.2, RCV000112220.1,