K52N (p.Lys52Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K52N (p.Lys52Asn) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 7. The record also includes structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- rs1405115548
- ClinGen CA362163575
- ClinVar RCV002710888
- Uncertain significance
- Atrial septal defect 7
- Missense
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available