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rs80357851

From SNPedia

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


Make rs80357851(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093633
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357851
ebirs80357851
HLIrs80357851
Exacrs80357851
Varsomers80357851
Maprs80357851
PheGenIrs80357851
hapmaprs80357851
1000 genomesrs80357851
hgdprs80357851
ensemblrs80357851
gopubmedrs80357851
geneviewrs80357851
scholarrs80357851
googlers80357851
pharmgkbrs80357851
gwascentralrs80357851
openSNPrs80357851
23andMers80357851
23andMe allrs80357851
SNP Nexus

SNPshotrs80357851
SNPdbers80357851
MSV3drs80357851
GWAS Ctlgrs80357851
Max Magnitude6
rs80357851, also known as 2017delC, c.1898_1898delC and p.Pro633Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357851(;)
Alt rs80357851(;)
Reference rs80357851(C;C)
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.41245650delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047627.2, RCV000111727.1,