Y38C (p.Tyr38Cys) variant of BTD (Biotinidase)
Y38C (p.Tyr38Cys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotinidase deficiency. The record also includes published literature and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- rs2471440561
- ClinGen CA351603088
- ClinVar RCV002904660
- Uncertain significance
- Biotinidase deficiency
- Missense
- ClinVar: Uncertain significance (Biotinidase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)