G34V (p.Gly34Val) variant of ACADM (P11310)
G34V (p.Gly34Val) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The record also includes published literature and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- rs2525552120
- ClinGen CA340807413
- ClinVar RCV003816415
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)