Variant: rs149782619 

    present in Gene: HINT1
    present in Chromosome: 5
    Position on Chromosome: 131165096
    Alleles of this Variant: C/G;T

rs149782619 in HINT1 gene and Isaacs syndrome PMID 22961002 2012 Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

PMID 27549087 2016 Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

PMID 26182879 2015 A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.

PMID 25342199 2015 Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.