TBX5
Gene name: T-box 5OMIM ID: 601620
Chromosome location: 12q24.21
Mutations
| Disease/Phenotype | Tetralogy of Fallot |
|---|---|
| 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. |