C710W (p.Cys710Trp) variant of ADAMTS13 (Q76LX8)
C710W (p.Cys710Trp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The record also includes structural context.
C710W (p.Cys710Trp) variant details
- p.Cys710Trp
- rs1841759683
- TOPMed rs1841759683
- ClinGen CA375397241
- ClinVar RCV001729960
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available