Q51* (p.Gln51Ter) variant of CHD7 (Q9P2D1)
Q51* (p.Gln51Ter) in CHD7 (Q9P2D1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- rs886039523
- ClinGen CA10588456
- ClinVar RCV000255545
- Ensembl rs886039523
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available