Tetralogy of Fallot
OMIM:187500Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | TBX5 |
|---|---|
| Reference transcript | NM_000192.3 |
| DNA Change | c.835C>T |
| A.A. Change | p.Arg279X |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G.Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. Am J Med Genet A. 2014 Dec;164A(12):3100-7. |