DYNC2H1
Gene name: dynein, cytoplasmic 2, heavy chain 1OMIM ID: 603297
Chromosome location: 11q22.3
Mutations
| Disease/Phenotype | Asphyxiating thoracic dystrophy 3 |
|---|---|
| Reference transcript | NM_001080463.1 |
| DNA Change | c.11284A>G |
| A.A. Change | p.Met3762Val |
| Exon/Intron | exon 78 |
| Mutation Type | substitution |
| Reference | Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. |
| Disease/Phenotype | Asphyxiating thoracic dystrophy 3 |
|---|---|
| Reference transcript | NM_001080463.1 |
| DNA Change | c.5971A>T |
| A.A. Change | p.Met1991Leu |
| Exon/Intron | exon 38 |
| Mutation Type | substitution |
| Reference | Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. |