C344R (p.Cys344Arg) variant of HSPG2 (P98160)
C344R (p.Cys344Arg) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Schwartz-Jampel syndrome type 1.
C344R (p.Cys344Arg) variant details
- p.Cys344Arg
- rs2550800597
- ClinGen CA338968677
- ClinVar RCV003444078
- Likely pathogenic
- Schwartz-Jampel syndrome type 1
- Missense
- ClinVar: Likely pathogenic (Schwartz-Jampel syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic