W63C (p.Trp63Cys) variant of G6PC1 (P35575)
W63C (p.Trp63Cys) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The record also includes published literature and structural context.
W63C (p.Trp63Cys) variant details
- p.Trp63Cys
- rs764920787
- ClinGen CA399651240
- ClinVar RCV003143435
- Conflicting interpretations
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance (in GSD1A)
- UniProt: Uncertain significance (in GSD1A)
- 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)