Variant (rsID / SNP)

rs138738227

rs138738227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 146,741,075. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CNTNAP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:146741075
Cytoband: 7q35
HGVS: NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
Allele change: Missense_R160H

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.