Y49F (p.Tyr49Phe) variant of TSC1 (Hamartin)
Y49F (p.Tyr49Phe) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tuberous sclerosis 1. The record also includes published literature and structural context.
Y49F (p.Tyr49Phe) variant details
- p.Tyr49Phe
- rs2539113066
- ClinGen CA375375155
- ClinVar RCV003070413
- ClinVar RCV004779430
- Uncertain significance
- not provided; Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (not provided; Tuberous sclerosis 1)
- 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)