C1213R (p.Cys1213Arg) variant of ADAMTS13 (Q76LX8)
C1213R (p.Cys1213Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The record also includes population frequency data and structural context.
C1213R (p.Cys1213Arg) variant details
- p.Cys1213Arg
- gnomAD rs1554795860
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- UniProt: Likely pathogenic (in TTP)
- Population evidence available
- Structural context available