V66C (p.Val66Cys) variant of SLC37A4 (O43826)
V66C (p.Val66Cys) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
V66C (p.Val66Cys) variant details
- p.Val66Cys
- rs2497033380
- ClinGen CA477127719
- ClinVar RCV003472929
- Pathogenic
- Missense
- 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)