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rs121908338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 left ventricular noncompaction (reported)
(G;G) 0 common in clinvar


Make rs121908338(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position86687073
GeneLDB3
is asnp
is mentioned by
dbSNPrs121908338
ebirs121908338
HLIrs121908338
Exacrs121908338
Varsomers121908338
Maprs121908338
PheGenIrs121908338
hapmaprs121908338
1000 genomesrs121908338
hgdprs121908338
ensemblrs121908338
gopubmedrs121908338
geneviewrs121908338
scholarrs121908338
googlers121908338
pharmgkbrs121908338
gwascentralrs121908338
openSNPrs121908338
23andMers121908338
23andMe allrs121908338
SNP Nexus

SNPshotrs121908338
SNPdbers121908338
MSV3drs121908338
GWAS Ctlgrs121908338
GMAF0.005969
Max Magnitude4

rs121908338, also known as c.349G>A, p.Asp117Asn and D117N, 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 605906.0007 |id=605906 |rsnum=121908338 |variant=0007 }}

ClinVar
Risk rs121908338(A,C;A,C)
Alt rs121908338(A,C;A,C)
Reference rs121908338(G;G)
Significance Probable-non-pathogenic
Disease Dilated cardiomyopathy 1C not specified Dilated cardiomyopathy not provided Myofibrillar myopathy
Variation info
Gene LDB3
CLNDBN Dilated cardiomyopathy 1C not specified Dilated cardiomyopathy not provided Myofibrillar myopathy, ZASP-related
Reversed 0
HGVS NC_000010.10:g.88446830G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004998.4, RCV000036845.4, RCV000172755.1, RCV000224167.1, RCV000234167.1,