Q4K (p.Gln4Lys) variant of TSC1 (Hamartin)
Q4K (p.Gln4Lys) 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. The record also includes published literature and structural context.
Q4K (p.Gln4Lys) variant details
- p.Gln4Lys
- rs753838459
- ClinGen CA375375457
- ClinVar RCV002430810
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (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)