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rs45487699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 left ventricular noncompaction (reported)
Make rs45487699(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position86681680
GeneLDB3
is asnp
is mentioned by
dbSNPrs45487699
ebirs45487699
HLIrs45487699
Exacrs45487699
Varsomers45487699
Maprs45487699
PheGenIrs45487699
hapmaprs45487699
1000 genomesrs45487699
hgdprs45487699
ensemblrs45487699
gopubmedrs45487699
geneviewrs45487699
scholarrs45487699
googlers45487699
pharmgkbrs45487699
gwascentralrs45487699
openSNPrs45487699
23andMers45487699
23andMe allrs45487699
SNP Nexus

SNPshotrs45487699
SNPdbers45487699
MSV3drs45487699
GWAS Ctlgrs45487699
GMAF0.001377
Max Magnitude4
OMIM605906
Desc
Variant0005
Relatedalso
rs45487699, also known as c.566C>T, p.Ser189Leu and S189L, 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 605906.0005


ClinVar
Risk rs45487699(T;T)
Alt rs45487699(T;T)
Reference rs45487699(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1C not specified Familial hypertrophic cardiomyopathy 24 not provided Myofibrillar myopathy
Variation info
Gene LDB3
CLNDBN Dilated cardiomyopathy 1C not specified Familial hypertrophic cardiomyopathy 24 not provided Myofibrillar myopathy, ZASP-related
Reversed 0
HGVS NC_000010.10:g.88441437C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004996.3, RCV000038759.3, RCV000170300.3, RCV000172555.2, RCV000234541.1,