L7P (p.Leu7Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L7P (p.Leu7Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ASD7. The record also includes published literature and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- UniProt VAR 038212
- Pathogenic
- in ASD7
- Missense
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PMID 15342699)
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)