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Gene entry

SYNJ1

synaptojanin 1

Chromosome
21
Cytoband
21q22.11
Variants (rsID)
18

SYNJ1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.11). Its official name is “synaptojanin 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs2254562Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 53|Early-onset Parkinson disease 20
  • rs61750217Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 53|Early-onset Parkinson disease 20
  • rs147929290Conflicting interpretationssingle nucleotide variantEarly-onset Parkinson disease 20|Developmental and epileptic encephalopathy, 53
  • rs114053718Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 53|Early-onset Parkinson disease 20

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.