E21D (p.Glu21Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E21D (p.Glu21Asp) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in TOF and ASD7. The record also includes structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- 1000Genomes rs2277923
- ESP rs2277923
- ExAC rs2277923
- TOPMed rs2277923
- Benign
- in TOF and ASD7
- Missense
- EBI: Benign (in TOF and ASD7)
- UniProt: Benign (in TOF and ASD7)
- Structural context available