Q78* (p.Gln78Ter) variant of CHD7 (Q9P2D1)
Q78* (p.Gln78Ter) in CHD7 (Q9P2D1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs2150577671
- ClinGen CA371296616
- ClinVar RCV002269145
- Ensembl rs2150577671
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)