E89* (p.Glu89Ter) variant of ABCA4 (P78363)
E89* (p.Glu89Ter) in ABCA4 (P78363) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E89* (p.Glu89Ter) variant details
- p.Glu89Ter
- rs1662601425
- ClinVar RCV004560356
- ClinVar RCV005254906
- ClinVar RCV006488922
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)