G115R (p.Gly115Arg) variant of SLC37A4 (O43826)
G115R (p.Gly115Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Glucose-6-phosphate transport defect. The record also includes published literature and structural context.
G115R (p.Gly115Arg) variant details
- p.Gly115Arg
- rs2497032088
- ClinGen CA382904676
- ClinVar RCV003230955
- ClinVar RCV003475550
- Conflicting interpretations
- not specified; Glucose-6-phosphate transport defect
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)