E77* (p.Glu77Ter) variant of GABRB3 (P28472)
E77* (p.Glu77Ter) 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.
E77* (p.Glu77Ter) variant details
- p.Glu77Ter
- rs2504093926
- ClinGen CA391465182
- ClinVar RCV002446297
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)