E11* (p.Glu11Ter) variant of ALMS1 (Q8TCU4)
E11* (p.Glu11Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- rs2465969801
- ClinGen CA347250432
- ClinVar RCV003171643
- ClinVar RCV003609261
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)