Q6* (p.Gln6Ter) variant of LMNA (Prelamin-A/C)
Q6* (p.Gln6Ter) in LMNA (Prelamin-A/C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs61046466
- ClinGen CA017675
- ClinVar RCV000015564
- ClinVar RCV000041328
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (PMID 10080180)
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)