Q4P (p.Gln4Pro) variant of TSC1 (Hamartin)
Q4P (p.Gln4Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The record also includes published literature and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- rs2539146843
- ClinGen CA375375454
- ClinVar RCV003504695
- ClinVar RCV004369366
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- 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)