Y1018S (p.Tyr1018Ser) variant of SYNJ1 (O43426)
Y1018S (p.Tyr1018Ser) in SYNJ1 (O43426) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in DEE53. The record also includes published literature.
Y1018S (p.Tyr1018Ser) variant details
- p.Tyr1018Ser
- UniProt VAR 078806
- Benign
- in DEE53
- Missense
- EBI: Benign (in DEE53)
- UniProt: Benign (in DEE53)
- Cited in: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. (PMID 27435091)