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rs80357653

From SNPedia

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


Make rs80357653(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070980
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357653
ebirs80357653
HLIrs80357653
Exacrs80357653
Varsomers80357653
Maprs80357653
PheGenIrs80357653
hapmaprs80357653
1000 genomesrs80357653
hgdprs80357653
ensemblrs80357653
gopubmedrs80357653
geneviewrs80357653
scholarrs80357653
googlers80357653
pharmgkbrs80357653
gwascentralrs80357653
openSNPrs80357653
23andMers80357653
23andMe allrs80357653
SNP Nexus

SNPshotrs80357653
SNPdbers80357653
MSV3drs80357653
GWAS Ctlgrs80357653
Max Magnitude6
rs80357653, also known as 5053delG, c.4934_4934delG and p.Arg1645=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357653(;)
Alt rs80357653(;)
Reference rs80357653(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41222995delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048699.2, RCV000112428.1, RCV000130668.2, RCV000236929.1,