G1551E (p.Gly1551Glu) variant of TSC2 (Tuberin)
G1551E (p.Gly1551Glu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
G1551E (p.Gly1551Glu) variant details
- p.Gly1551Glu
- rs2151553490
- ClinGen CA394305026
- ClinVar RCV003512785
- Ensembl rs2151553490
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.49
- ClinVar: Uncertain significance (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)