TUBA1A
Gene name: tubulin, alpha 1aOMIM ID: 602529
Chromosome location: 12q13.12
Mutations
| Disease/Phenotype | Lissencephaly 3 |
|---|---|
| Reference transcript | NM_006009.3 |
| DNA Change | c.13A>C |
| A.A. Change | p.Ile5Leu |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Regal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W.TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 2011 Mar 15;76(11):988-92. |