N12R (p.Asn12Arg) variant of CDC73 (Parafibromin)
N12R (p.Asn12Arg) 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.
N12R (p.Asn12Arg) variant details
- p.Asn12Arg
- rs2527280897
- ClinGen CA2586967898
- ClinVar RCV003501680
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)