Variant: rs768554986 

    present in Gene: CNTNAP1
    present in Chromosome: 17
    Position on Chromosome: 42686969
    Alleles of this Variant: T/C

rs768554986 in CNTNAP1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 7 PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 27782105 2017 Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

PMID 28254648 2017 Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.