D47A (p.Asp47Ala) variant of TSC1 (Hamartin)
D47A (p.Asp47Ala) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D47A (p.Asp47Ala) variant details
- p.Asp47Ala
- rs2539113178
- ClinGen CA2580079896
- ClinVar RCV002839375
- ClinVar RCV004948804
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)