E19D (p.Glu19Asp) variant of CHD7 (Q9P2D1)
E19D (p.Glu19Asp) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The record also includes experimental measurements, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs1809004250
- ClinGen CA371295278
- ClinVar RCV001034858
- Ensembl rs1809004250
- Uncertain significance
- CHARGE syndrome
- Missense
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.45
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)