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rs273897655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273897655(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094327
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897655
ebirs273897655
HLIrs273897655
Exacrs273897655
Varsomers273897655
Maprs273897655
PheGenIrs273897655
hapmaprs273897655
1000 genomesrs273897655
hgdprs273897655
ensemblrs273897655
gopubmedrs273897655
geneviewrs273897655
scholarrs273897655
googlers273897655
pharmgkbrs273897655
gwascentralrs273897655
openSNPrs273897655
23andMers273897655
23andMe allrs273897655
SNP Nexus

SNPshotrs273897655
SNPdbers273897655
MSV3drs273897655
GWAS Ctlgrs273897655
Max Magnitude6
rs273897655, also known as E402X, c.1204G>T and p.Glu402Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897655(T;T)
Alt rs273897655(T;T)
Reference rs273897655(G;G)
Significance Untested
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.41246344C>A
CLNSRC ClinVar
CLNACC RCV000047377.2, RCV000111565.1,