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rs80357981

From SNPedia

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


Make rs80357981(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082518
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357981
ebirs80357981
HLIrs80357981
Exacrs80357981
Varsomers80357981
Maprs80357981
PheGenIrs80357981
hapmaprs80357981
1000 genomesrs80357981
hgdprs80357981
ensemblrs80357981
gopubmedrs80357981
geneviewrs80357981
scholarrs80357981
googlers80357981
pharmgkbrs80357981
gwascentralrs80357981
openSNPrs80357981
23andMers80357981
23andMe allrs80357981
SNP Nexus

SNPshotrs80357981
SNPdbers80357981
MSV3drs80357981
GWAS Ctlgrs80357981
Max Magnitude6
rs80357981, also known as 4362delG, c.4243_4243delG and p.Glu1415Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357981(;)
Alt rs80357981(;)
Reference rs80357981(G;G)
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.41234535delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031159.4, RCV000048498.2, RCV000217565.1,