Q76* (p.Gln76Ter) variant of ALPL (P05186)
Q76* (p.Gln76Ter) in ALPL (P05186) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HOPS. The record also includes published literature and structural context.
Q76* (p.Gln76Ter) variant details
- p.Gln76Ter
- rs1333485956
- ClinGen CA338877981
- ClinVar RCV003461858
- ClinVar RCV005021973
- Pathogenic
- in HOPS
- Stop Gained
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)