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rs80357908

From SNPedia

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


Make rs80357908(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094021
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357908
ebirs80357908
HLIrs80357908
Exacrs80357908
Varsomers80357908
Maprs80357908
PheGenIrs80357908
hapmaprs80357908
1000 genomesrs80357908
hgdprs80357908
ensemblrs80357908
gopubmedrs80357908
geneviewrs80357908
scholarrs80357908
googlers80357908
pharmgkbrs80357908
gwascentralrs80357908
openSNPrs80357908
23andMers80357908
23andMe allrs80357908
SNP Nexus

SNPshotrs80357908
SNPdbers80357908
MSV3drs80357908
GWAS Ctlgrs80357908
Max Magnitude6
rs80357908, also known as 1629delC, c.1510_1510delC and p.Arg504Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357908(;)
Alt rs80357908(;)
Reference rs80357908(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246038delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030999.4, RCV000047506.2, RCV000130024.2,