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rs55650082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs55650082(A;A)
Make rs55650082(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093742
GeneBRCA1
is asnp
is mentioned by
dbSNPrs55650082
ebirs55650082
HLIrs55650082
Exacrs55650082
Varsomers55650082
Maprs55650082
PheGenIrs55650082
hapmaprs55650082
1000 genomesrs55650082
hgdprs55650082
ensemblrs55650082
gopubmedrs55650082
geneviewrs55650082
scholarrs55650082
googlers55650082
pharmgkbrs55650082
gwascentralrs55650082
openSNPrs55650082
23andMers55650082
23andMe allrs55650082
SNP Nexus

SNPshotrs55650082
SNPdbers55650082
MSV3drs55650082
GWAS Ctlgrs55650082
Max Magnitude6
rs55650082, also known as E597X, c.1789G>T and p.Glu597Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs55650082(A,T;A,T)
Alt rs55650082(A,T;A,T)
Reference rs55650082(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245759C>A; NC_000017.10:g.41245759C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000047584.3, RCV000111684.1, RCV000034728.1, RCV000047583.5, RCV000074567.6, RCV000077495.7, RCV000162685.1,