| Entrez Gene ID | 282996 |
|---|---|
| Official Gene Symbol | RBM20 (GeneCards) |
| Full name | RNA binding motif protein 20 |
| Location | 10q25.2 |
| Other ids | Vega : OTTHUMG00000019043 MIM : 613171 HGNC : HGNC:27424 Ensembl : ENSG00000203867 |
| Other names | None |
| Summary | This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1113 | 282996 | RBM20 | 10 | 112541183 | 112541183 | Human Skin Fibroblasts | HiSeq 2500 |
| 14285 | 282996 | RBM20 | 10 | 112621139 | 112621139 | Asymptomatic | HiSeq 2500 HiSeq X Ten |