Q119* (p.Gln119Ter) variant of CHM (P24386)
Q119* (p.Gln119Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q119* (p.Gln119Ter) variant details
- p.Gln119Ter
- rs1930445401
- ClinGen CA413787370
- ClinVar RCV001073539
- Ensembl rs1930445401
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available