Q115* (p.Gln115Ter) variant of GABRB3 (P28472)
Q115* (p.Gln115Ter) in GABRB3 (P28472) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q115* (p.Gln115Ter) variant details
- p.Gln115Ter
- rs1892478912
- ClinGen CA391460933
- ClinVar RCV001260772
- Ensembl rs1892478912
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)