Asphyxiating thoracic dystrophy 3
OMIM:613091Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | DYNC2H1 |
|---|---|
| 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. |
| Gene Symbol | DYNC2H1 |
|---|---|
| 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. |