Spinocerebellar Ataxia 46(Spinocerebellar ataxia type 46)
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 | PLD3/23646 | phospholipase D family member 3 | 19q13.2 | Chr19, NC_000019.10 (40348695..40378485) |
29791 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |