K104* (p.Lys104Ter) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K104* (p.Lys104Ter) in NKX2-5 (Homeobox protein Nkx-2.5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K104* (p.Lys104Ter) variant details
- p.Lys104Ter
- rs1761430125
- ClinGen CA362163270
- ClinVar RCV001058874
- Ensembl rs1761430125
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available