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Variant (rsID / SNP)

rs143856702

CNTNAP2

rs143856702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 148,112,639. 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
7:148112639
Cytoband
7q36.1
HGVS
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
Allele change
Synonymous_A1309A

Associated conditions / phenotypes

History of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.