Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr10:3181221
- GRCh38:
- Chr10:3139029
| PITRM1 | T931M, T496M, T660M, T726M, T833M, T857M, T865M, T923M, T932M | Spinocerebellar ataxia, autosomal recessive 30 | Pathogenic
(Jul 6, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:3207512
- GRCh38:
- Chr10:3165320
| PITRM1 | R183Q, R151Q, R175Q | Spinocerebellar ataxia, autosomal recessive 30 | Pathogenic
(Jul 6, 2021) | no assertion criteria provided |