APTX
Gene name: aprataxinOMIM ID: 606350
Chromosome location: 9p21.1
Mutations
| Disease/Phenotype | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|---|---|
| Reference transcript | NM_175073.2 |
| DNA Change | c.-5+1225_*44991del67512 |
| A.A. Change | |
| Exon/Intron | exons 3 to 9 |
| Mutation Type | deletion |
| Reference | van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. |