Variant: rs587777431 

    present in Gene: TNPO3
    present in Chromosome: 7
    Position on Chromosome: 128970293
    Alleles of this Variant: C/G;T

rs587777431 in TNPO3 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F PMID 31071488 2019 A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

PMID 31192305 2019 Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.

PMID 23543484 2013 Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

PMID 31465518 2019 The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.

PMID 23667635 2013 Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.