NKX2-5
Gene name: NK2 homeobox 5OMIM ID: 600584
Chromosome location: 5q35.1
Mutations
| Disease/Phenotype | Atrial septal defect 7 with or without atrioventricular conduction defects |
|---|---|
| Reference transcript | NM_004387.3 |
| DNA Change | c.479A>C |
| A.A. Change | p.Gln160Pro |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Rifai L, Maazouzi W, Sefiani A.Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. Cardiol Young. 2007 Feb;17(1):107-9. |