Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147929290

SYNJ1

rs147929290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNJ1. Location: chromosome 21, position 34,038,278. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SYNJ1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:34038278
Cytoband
21q22.11
HGVS
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
Allele change
Missense_I702T

Associated conditions / phenotypes

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

Public references

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