L49H (p.Leu49His) variant of BTD (Biotinidase)
L49H (p.Leu49His) 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.
L49H (p.Leu49His) variant details
- p.Leu49His
- rs1205964567
- ClinGen CA278485
- ClinVar RCV000169475
- ClinVar RCV000759005
- 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)