rs769253550

This variant is located in the SYNJ1 gene.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Early-onset Parkinson disease 20;Developmental and epileptic encephalopathy, 53

View on ClinVar →

About SYNJ1

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

View all SYNJ1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…