Variant: rs750908377 

    present in Gene: TECPR2
    present in Chromosome: 14
    Position on Chromosome: 102432030
    Alleles of this Variant: T/-

rs750908377 in TECPR2 gene and SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE PMID 26542466 2016 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.