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rs80357356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357356(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091867
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357356
ebirs80357356
HLIrs80357356
Exacrs80357356
Varsomers80357356
Maprs80357356
PheGenIrs80357356
hapmaprs80357356
1000 genomesrs80357356
hgdprs80357356
ensemblrs80357356
gopubmedrs80357356
geneviewrs80357356
scholarrs80357356
googlers80357356
pharmgkbrs80357356
gwascentralrs80357356
openSNPrs80357356
23andMers80357356
23andMe allrs80357356
SNP Nexus

SNPshotrs80357356
SNPdbers80357356
MSV3drs80357356
GWAS Ctlgrs80357356
Max Magnitude6
rs80357356, also known as E1222X, c.3664G>T and p.Glu1222Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357356(T;T)
Alt rs80357356(T;T)
Reference rs80357356(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243884C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048278.2, RCV000083196.3, RCV000131817.2,