NKX2-5 and Ebstein anomaly: Furthermore, a single nucleotide variant in the NKX2-5 gene locus at the 673th nucleotide converting the 188th amino acid from Aspartate (N) to Lysine (K) was associated with Ebstein’s Anomaly, a congenital heart defect diagnosed with atrialized right ventricle and abnormal tricuspid valve16,46.