Q35* (p.Gln35Ter) variant of MYO7A (Unconventional myosin-VIIa)
Q35* (p.Gln35Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- rs1951307710
- ClinGen CA381926455
- ClinVar RCV001264286
- Ensembl rs1951307710
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)