R35G (p.Arg35Gly) variant of HMGCS2 (P54868)
R35G (p.Arg35Gly) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The record also includes published literature and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- rs1653321576
- ClinGen CA341869304
- ClinVar RCV001299698
- ClinVar RCV006372469
- Uncertain significance
- Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)