Q35R (p.Gln35Arg) variant of MYO7A (Unconventional myosin-VIIa)
Q35R (p.Gln35Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q35R (p.Gln35Arg) variant details
- p.Gln35Arg
- rs2135627311
- ClinGen CA2573147683
- ClinVar RCV001960750
- Ensembl rs2135627311
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available