Variant (rsID / SNP)

rs149185385

rs149185385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,815,334. 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: 7:147815334
Cytoband: 7q35
HGVS: NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
Allele change: Synonymous_F836F

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.