Variant (rsID / SNP)

rs145911562

rs145911562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYN1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SYN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_006950.3(SYN1):c.426A>G (p.Lys142=)
Allele change: Synonymous_K142K

Associated conditions / phenotypes

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

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.