Q287PfsX27 variant of SYNJ1 (O43426)
Q287PfsX27 in SYNJ1 (O43426) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
Q287PfsX27 variant details
- rs886039732
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic