Atrial septal defect 7 with or without atrioventricular conduction defects
OMIM:108900Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | NKX2-5 |
|---|---|
| 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. |