Y48* (p.Tyr48Ter) variant of TSC1 (Hamartin)
Y48* (p.Tyr48Ter) in TSC1 (Hamartin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- rs2132269028
- ClinGen CA375375161
- ClinVar RCV003613744
- Pathogenic
- Stop Gained
- 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)