Entity Details
Details
| PrimaryID | 200403 |
| RefseqGene | NG_054753 |
| Symbol | VWA3B |
| Name | von Willebrand factor A domain containing 3B |
| Chromosome | 2 |
| Location | 2q11.2 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2002-04-30 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 616948 | OMIM | Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions