Variant: rs1554490549

present in Gene: CNTNAP2 present in Chromosome: 7 Position on Chromosome: 147485951 Alleles of this Variant: TG/-

rs1554490549 in CNTNAP2 gene and Pitt-Hopkins-Like Syndrome 1 PMID 16571880 2006 Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.