Q5* (p.Gln5Ter) variant of MYO7A (Unconventional myosin-VIIa)
Q5* (p.Gln5Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs1950740762
- ClinGen CA381946787
- ClinVar RCV001204835
- Ensembl rs1950740762
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available