R190H (p.Arg190His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R190H (p.Arg190His) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Atrial septal defect 7. The record also includes structural context.
R190H (p.Arg190His) variant details
- p.Arg190His
- NCI-TCGA Cosmic COSV6129
- Pathogenic
- Atrial septal defect 7
- Missense
- ClinVar: Pathogenic (Atrial septal defect 7)
- UniProt: Pathogenic (in ASD7)
- Structural context available