Variant (rsID / SNP)

rs200533370

rs200533370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYN1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SYN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
Allele change: Missense_T567A

Associated conditions / phenotypes

X-linked epilepsy-learning disabilities-behavior disorders syndrome|History of neurodevelopmental disorder|Intellectual disability, X-linked 50

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.