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rs80357980

From SNPedia

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


Make rs80357980(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091919
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357980
ebirs80357980
HLIrs80357980
Exacrs80357980
Varsomers80357980
Maprs80357980
PheGenIrs80357980
hapmaprs80357980
1000 genomesrs80357980
hgdprs80357980
ensemblrs80357980
gopubmedrs80357980
geneviewrs80357980
scholarrs80357980
googlers80357980
pharmgkbrs80357980
gwascentralrs80357980
openSNPrs80357980
23andMers80357980
23andMe allrs80357980
SNP Nexus

SNPshotrs80357980
SNPdbers80357980
MSV3drs80357980
GWAS Ctlgrs80357980
Max Magnitude6
rs80357980, also known as 3731delA, c.3612_3612delA and p.Arg1204=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357980(;)
Alt rs80357980(;)
Reference rs80357980(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243936delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031114.4, RCV000048253.2, RCV000219713.1,