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rs80357035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357035(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092821
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357035
ebirs80357035
HLIrs80357035
Exacrs80357035
Varsomers80357035
Maprs80357035
PheGenIrs80357035
hapmaprs80357035
1000 genomesrs80357035
hgdprs80357035
ensemblrs80357035
gopubmedrs80357035
geneviewrs80357035
scholarrs80357035
googlers80357035
pharmgkbrs80357035
gwascentralrs80357035
openSNPrs80357035
23andMers80357035
23andMe allrs80357035
SNP Nexus

SNPshotrs80357035
SNPdbers80357035
MSV3drs80357035
GWAS Ctlgrs80357035
Max Magnitude6
rs80357035, also known as E904X, c.2710G>T and p.Glu904Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357035(C,T;C,T)
Alt rs80357035(C,T;C,T)
Reference rs80357035(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244838C>A; NC_000017.10:g.41244838C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000031065.5, RCV000047940.2, RCV000130465.2, RCV000229677.1,