C737R (p.Cys737Arg) variant of ADAMTS13 (Q76LX8)
C737R (p.Cys737Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombotic thrombocytopenic purpura. The record also includes structural context.
C737R (p.Cys737Arg) variant details
- p.Cys737Arg
- rs1554791280
- Ensembl rs1554791280
- ClinGen CA375397469
- ClinVar RCV000677341
- Pathogenic
- Thrombotic thrombocytopenic purpura
- Missense
- ClinVar: Pathogenic (Thrombotic thrombocytopenic purpura)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available