P72* (p.Pro72Ter) variant of WDR45 (Q9Y484)
P72* (p.Pro72Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
P72* (p.Pro72Ter) variant details
- p.Pro72Ter
- rs1569523537
- ClinGen CA891844553
- ClinVar RCV000687313
- Ensembl rs1569523537
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)