Q16* (p.Gln16Ter) variant of ABCG5 (Q9H222)
Q16* (p.Gln16Ter) in ABCG5 (Q9H222) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- rs387906912
- ClinGen CA259823
- ClinVar RCV000023441
- Ensembl rs387906912
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. (PMID 20719861)