Q4* (p.Gln4Ter) variant of WDR45 (Q9Y484)
Q4* (p.Gln4Ter) 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.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs2065048388
- ClinGen CA412949568
- ClinVar RCV001218190
- ClinVar RCV006272435
- 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)