Spinocerebellar Ataxia 12 Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PPP2R2B/5521 | protein phosphatase 2 regulatory subunit Bbeta | 5q32 | Chr5, NC_000005.10 (146580742..147081520, complement) |
500779 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |