Variant (rsID / SNP)

rs114053718

rs114053718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNJ1. Location: chromosome 21, position 34,029,195. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SYNJ1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:34029195
Cytoband: 21q22.11
HGVS: NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr)
Allele change: Missense_I861T

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.