Y29* (p.Tyr29Ter) variant of TRMU (O75648)
Y29* (p.Tyr29Ter) in TRMU (O75648) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Y29* (p.Tyr29Ter) variant details
- p.Tyr29Ter
- rs769668643
- ClinGen CA411939807
- ClinVar RCV001866829
- ClinVar RCV002506887
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)