Variant (rsID / SNP)

rs150248483

rs150248483 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.1107C>T (p.Ile369=)
Allele change: Synonymous_I369I

Associated conditions / phenotypes

History of neurodevelopmental disorder|X-linked epilepsy-learning disabilities-behavior disorders syndrome

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.