Variant: rs761805324 

    present in Gene: CNTNAP1
    present in Chromosome: 17
    Position on Chromosome: 42691457
    Alleles of this Variant: C/T

rs761805324 in CNTNAP1 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

PMID 29511323 2018 Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

PMID 27818385 2016 Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

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