G1239R (p.Gly1239Arg) variant of ADAMTS13 (Q76LX8)
G1239R (p.Gly1239Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Upshaw-Schulman syndrome. The record also includes structural context.
G1239R (p.Gly1239Arg) variant details
- p.Gly1239Arg
- rs2490499610
- ClinGen CA375415780
- ClinVar RCV003990403
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- ClinVar: Pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Structural context available