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rs80357304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357304(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094081
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357304
ebirs80357304
HLIrs80357304
Exacrs80357304
Varsomers80357304
Maprs80357304
PheGenIrs80357304
hapmaprs80357304
1000 genomesrs80357304
hgdprs80357304
ensemblrs80357304
gopubmedrs80357304
geneviewrs80357304
scholarrs80357304
googlers80357304
pharmgkbrs80357304
gwascentralrs80357304
openSNPrs80357304
23andMers80357304
23andMe allrs80357304
SNP Nexus

SNPshotrs80357304
SNPdbers80357304
MSV3drs80357304
GWAS Ctlgrs80357304
Max Magnitude6
rs80357304, also known as G484X, c.1450G>T and p.Gly484Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357304(T;T)
Alt rs80357304(T;T)
Reference rs80357304(G;G)
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.41246098C>A
CLNSRC ClinVar
CLNACC RCV000047481.2, RCV000111620.1,