rs387906776

This is a variant in the NKX2-5 gene that changes a proline to an threonine.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters4 publications

Atrial septal defect 7; Cardiovascular phenotype; Conotruncal heart malformations (CTHM); Hypoplastic left heart syndrome 2 (HLHS2); Hypothyroidism, congenital, nongoitrous, 5 (CHNG5); Tetralogy of Fallot (TOF); Ventricular septal defect 3 (VSD3)

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About NKX2-5

This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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