Y31* (p.Tyr31Ter) variant of AICDA (Q9GZX7)
Y31* (p.Tyr31Ter) in AICDA (Q9GZX7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HIGM2. The record also includes structural context.
Y31* (p.Tyr31Ter) variant details
- p.Tyr31Ter
- rs777729620
- ClinGen CA384038123
- ClinVar RCV003037444
- Pathogenic
- in HIGM2
- Stop Gained
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Structural context available