Variant (rsID / SNP)

rs2254562

rs2254562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNJ1. Location: chromosome 21, position 34,059,352. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SYNJ1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:34059352
Cytoband: 21q22.11
HGVS: NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)
Allele change: Missense_K295R

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.