Variant: rs374997012 

    present in Gene: TWNK;MRPL43
    present in Chromosome: 10
    Position on Chromosome: 100989114
    Alleles of this Variant: C/T

rs374997012 in TWNK;MRPL43 gene and Auditory neuropathy PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Cerebellar Ataxia PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Congenital pes cavus PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Decreased tendon reflex PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Decreased vibratory sense PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Impaired body position sense PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Infantile onset spinocerebellar ataxia PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Ophthalmoplegia PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

rs374997012 in TWNK;MRPL43 gene and Optic Atrophy PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.