rs45514002
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | left ventricular noncompaction (reported) |
| (G;G) | 0 | common in clinvar |
| Make rs45514002(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 86726175 |
| Gene | LDB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45514002 |
| dbSNP (classic) | rs45514002 |
| ClinGen | rs45514002 |
| ebi | rs45514002 |
| HLI | rs45514002 |
| Exac | rs45514002 |
| Gnomad | rs45514002 |
| Varsome | rs45514002 |
| LitVar | rs45514002 |
| Map | rs45514002 |
| PheGenI | rs45514002 |
| Biobank | rs45514002 |
| 1000 genomes | rs45514002 |
| hgdp | rs45514002 |
| ensembl | rs45514002 |
| geneview | rs45514002 |
| scholar | rs45514002 |
| rs45514002 | |
| pharmgkb | rs45514002 |
| gwascentral | rs45514002 |
| openSNP | rs45514002 |
| 23andMe | rs45514002 |
| SNPshot | rs45514002 |
| SNPdbe | rs45514002 |
| MSV3d | rs45514002 |
| GWAS Ctlg | rs45514002 |
| GMAF | 0.001377 |
| Max Magnitude | 4 |
rs45514002, also known as c.2017G>A, p.Asp673Asn and D673N as well as Asp626Asn, 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 605906.0009
| ClinVar | |
|---|---|
| Risk | rs45514002(A;A) |
| Alt | rs45514002(A;A) |
| Reference | Rs45514002(G;G) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1C Left ventricular noncompaction 3 not specified |
| Variation | info |
| Gene | LDB3 |
| CLNDBN | Dilated cardiomyopathy 1C Left ventricular noncompaction 3 not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.88485932G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005000.5, RCV000005001.5, RCV000414354.1, |
