Y106* (p.Tyr106Ter) variant of ABCA4 (P78363)
Y106* (p.Tyr106Ter) in ABCA4 (P78363) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y106* (p.Tyr106Ter) variant details
- p.Tyr106Ter
- rs1662508844
- ClinGen CA341293221
- ClinVar RCV003562274
- Ensembl rs1662508844
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available