Y51* (p.Tyr51Ter) variant of RAI1 (Retinoic acid-induced protein 1)
Y51* (p.Tyr51Ter) in RAI1 (Retinoic acid-induced protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y51* (p.Tyr51Ter) variant details
- p.Tyr51Ter
- rs961308480
- ClinGen CA398544863
- ClinVar RCV001267215
- TOPMed rs961308480
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)