R7* (p.Arg7Ter) variant of WDR45 (Q9Y484)
R7* (p.Arg7Ter) 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.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs886041382
- ClinGen CA10603602
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59875
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)