E9D (p.Glu9Asp) variant of TSC1 (Hamartin)
E9D (p.Glu9Asp) 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.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs2539145878
- ClinGen CA375375419
- ClinVar RCV002441570
- 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)