Y16* (p.Tyr16Ter) variant of BTD (Biotinidase)
Y16* (p.Tyr16Ter) in BTD (Biotinidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- rs1057516812
- ClinGen CA16040909
- ClinVar RCV000411926
- TOPMed rs1057516812
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)