E31G (p.Glu31Gly) variant of TSC1 (Hamartin)
E31G (p.Glu31Gly) 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.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- rs2539142669
- ClinGen CA2580079904
- ClinVar RCV003055327
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)