C36* (p.Cys36Ter) variant of NTRK2 (Q16620)
C36* (p.Cys36Ter) in NTRK2 (Q16620) 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.
C36* (p.Cys36Ter) variant details
- p.Cys36Ter
- rs2058655147
- ClinGen CA374004750
- ClinVar RCV001266336
- Ensembl rs2058655147
- 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)