C15L (p.Cys15Leu) variant of BTD (Biotinidase)
C15L (p.Cys15Leu) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C15L (p.Cys15Leu) variant details
- p.Cys15Leu
- rs750965140
- ClinGen CA2277239
- ClinVar RCV000987128
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)