S53G (p.Ser53Gly) variant of TSC1 (Hamartin)
S53G (p.Ser53Gly) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- rs2539112262
- ClinGen CA375375134
- ClinVar RCV003614967
- ClinVar RCV004371903
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)