Variant (rsID / SNP)

rs61750217

rs61750217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNJ1. Location: chromosome 21, position 34,003,786. Clinical significance in the table: Benign.

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Reference-table entries

SYNJ1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:34003786
Cytoband: 21q22.11
HGVS: NM_203446.3(SYNJ1):c.*329G>A
Allele change: Missense_G1367E

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.