Q37* (p.Gln37Ter) variant of MYO7A (Unconventional myosin-VIIa)
Q37* (p.Gln37Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- rs1951308166
- ClinGen CA381926505
- cosmic curated COSV68683
- ClinVar RCV001263712
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)