| Entrez Gene ID | 284403 |
|---|---|
| Official Gene Symbol | WDR62 (GeneCards) |
| Full name | WD repeat domain 62 |
| Location | 19q13.12 |
| Other ids | Vega : OTTHUMG00000048139 MIM : 613583 HGNC : HGNC:24502 Ensembl : ENSG00000075702 |
| Other names | MCPH2, C19orf14 |
| Summary | This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21034 | 284403 | WDR62 | 19 | 36564934 | 36564934 | Cockayne syndrome | HiSeq X Ten |