Y41* (p.Tyr41Ter) variant of MCCC1 (Q96RQ3)
Y41* (p.Tyr41Ter) in MCCC1 (Q96RQ3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- rs2108569910
- ClinGen CA355322442
- ClinVar RCV001382304
- Ensembl rs2108569910
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available