Q56* (p.Gln56Ter) variant of APOA1 (Apolipoprotein A-I)
Q56* (p.Gln56Ter) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- rs121912725
- ClinGen CA127574
- ClinVar RCV004555840
- Ensembl rs121912725
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and… (PMID 7981179)