A2822T (p.Ala2822Thr) variant of HSPG2 (P98160)
A2822T (p.Ala2822Thr) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Schwartz-Jampel syndrome type 1. The record also includes variant effect predictions, population frequency data, and published literature.
A2822T (p.Ala2822Thr) variant details
- p.Ala2822Thr
- rs748523693
- ClinGen CA670782
- ClinVar RCV001800297
- ExAC rs748523693
- Pathogenic
- Schwartz-Jampel syndrome type 1
- Missense
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.18
- ClinVar: Pathogenic (Schwartz-Jampel syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and… (PMID 11941538)