V25G (p.Val25Gly) variant of TSC1 (Hamartin)
V25G (p.Val25Gly) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The record also includes published literature and structural context.
V25G (p.Val25Gly) variant details
- p.Val25Gly
- rs2539143560
- ClinGen CA375375321
- ClinVar RCV002806708
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (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)