W32C (p.Trp32Cys) variant of CDC73 (Parafibromin)
W32C (p.Trp32Cys) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W32C (p.Trp32Cys) variant details
- p.Trp32Cys
- rs2527281408
- ClinGen CA2739275497
- ClinVar RCV003607826
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)