rs45487699
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 4 | left ventricular noncompaction (reported) |
| Make rs45487699(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 86681680 |
| Gene | LDB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45487699 |
| dbSNP (classic) | rs45487699 |
| ClinGen | rs45487699 |
| ebi | rs45487699 |
| HLI | rs45487699 |
| Exac | rs45487699 |
| Gnomad | rs45487699 |
| Varsome | rs45487699 |
| LitVar | rs45487699 |
| Map | rs45487699 |
| PheGenI | rs45487699 |
| Biobank | rs45487699 |
| 1000 genomes | rs45487699 |
| hgdp | rs45487699 |
| ensembl | rs45487699 |
| geneview | rs45487699 |
| scholar | rs45487699 |
| rs45487699 | |
| pharmgkb | rs45487699 |
| gwascentral | rs45487699 |
| openSNP | rs45487699 |
| 23andMe | rs45487699 |
| SNPshot | rs45487699 |
| SNPdbe | rs45487699 |
| MSV3d | rs45487699 |
| GWAS Ctlg | rs45487699 |
| GMAF | 0.001377 |
| Max Magnitude | 4 |
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 | Other |
| 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 UniProtKB (protein) |
| CLNACC | RCV000004996.3, RCV000038759.4, RCV000170300.3, RCV000172555.2, RCV000234541.1, |
