E31* (p.Glu31Ter) variant of CHD7 (Q9P2D1)
E31* (p.Glu31Ter) in CHD7 (Q9P2D1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- rs2487257832
- ClinGen CA371295523
- ClinVar RCV002942341
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.297
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)