K7* (p.Lys7Ter) variant of TSC2 (Tuberin)
K7* (p.Lys7Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from UniProt describe it as tuberous sclerosis syndrome. The record also includes published literature and structural context.
K7* (p.Lys7Ter) variant details
- p.Lys7Ter
- rs397514951
- ClinGen CA016415
- ClinVar RCV000055137
- Ensembl rs397514951
- Tuberous sclerosis syndrome
- Stop Gained
- UniProt: Tuberous sclerosis syndrome
- 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)