Spinocerebellar Ataxia Type 7(Ataxia with pigmentary retinopathy) 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 | ATXN7/6314 | ataxin 7 | 3p14.1 | Chr3, NC_000003.12 (63863144..64003462) |
140319 nt | 22 | 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 |