Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356923(A;A)
Make rs80356923(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091891
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356923
ebirs80356923
HLIrs80356923
Exacrs80356923
Varsomers80356923
Maprs80356923
PheGenIrs80356923
hapmaprs80356923
1000 genomesrs80356923
hgdprs80356923
ensemblrs80356923
gopubmedrs80356923
geneviewrs80356923
scholarrs80356923
googlers80356923
pharmgkbrs80356923
gwascentralrs80356923
openSNPrs80356923
23andMers80356923
23andMe allrs80356923
SNP Nexus

SNPshotrs80356923
SNPdbers80356923
MSV3drs80356923
GWAS Ctlgrs80356923
Max Magnitude6
rs80356923, also known as E1214X, c.3640G>T and p.Glu1214Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356923(A,T;A,T)
Alt rs80356923(A,T;A,T)
Reference rs80356923(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243908C>A; NC_000017.10:g.41243908C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048267.2, RCV000112143.3, RCV000048266.4, RCV000112142.2, RCV000162552.1,