Variant (rsID / SNP)

rs56356283

rs56356283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 146,829,564. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNTNAP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:146829564
Cytoband: 7q35
HGVS: NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
Allele change: Synonymous_I437I

Associated conditions / phenotypes

Cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like 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.