S1427I (p.Ser1427Ile) variant of TSC2 (Tuberin)
S1427I (p.Ser1427Ile) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The record also includes published literature and structural context.
S1427I (p.Ser1427Ile) variant details
- p.Ser1427Ile
- rs397515250
- ClinGen CA394300855
- ClinVar RCV001969336
- TOPMed rs397515250
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)