G822D (p.Gly822Asp) variant of HMGCR (P04035)
G822D (p.Gly822Asp) in HMGCR (P04035) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Limb-girdle muscular dystrophy. The record also includes published literature and structural context.
G822D (p.Gly822Asp) variant details
- p.Gly822Asp
- rs2478804975
- ClinGen CA360129628
- ClinVar RCV003228086
- ClinVar RCV003232630
- Pathogenic
- Limb-girdle muscular dystrophy
- Missense
- ClinVar: Pathogenic (Limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR28)
- UniProt: Pathogenic (in LGMDR28)
- Structural context available
- Cited in: Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. (PMID 36745799)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)