G17D (p.Gly17Asp) variant of CHM (P24386)
G17D (p.Gly17Asp) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs2521064591
- ClinGen CA2580102043
- ClinVar RCV002848399
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available