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rs121908337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 left ventricular noncompaction (reported)
Make rs121908337(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position86681731
GeneLDB3
is asnp
is mentioned by
dbSNPrs121908337
ebirs121908337
HLIrs121908337
Exacrs121908337
Varsomers121908337
Maprs121908337
PheGenIrs121908337
hapmaprs121908337
1000 genomesrs121908337
hgdprs121908337
ensemblrs121908337
gopubmedrs121908337
geneviewrs121908337
scholarrs121908337
googlers121908337
pharmgkbrs121908337
gwascentralrs121908337
openSNPrs121908337
23andMers121908337
23andMe allrs121908337
SNP Nexus

SNPshotrs121908337
SNPdbers121908337
MSV3drs121908337
GWAS Ctlgrs121908337
Max Magnitude4

rs121908337, also known as c.617C>T, p.Thr206Ile and T206I, is a rare mutation in the LDB3 gene on chromosome 10.

Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.

See OMIM 605906.0006

OMIM605906
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908337(T;T)
Alt rs121908337(T;T)
Reference rs121908337(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1C
Variation info
Gene LDB3
CLNDBN Dilated cardiomyopathy 1C
Reversed 0
HGVS NC_000010.10:g.88441488C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004997.3,