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Variant (rsID / SNP)

rs141078449

CNTNAP2

rs141078449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 148,080,787. 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
7:148080787
Cytoband
7q36.1
HGVS
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
Allele change
Synonymous_G1174G

Associated conditions / phenotypes

Cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder

Public references

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