Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777431
rs587777431
G 0.800 CausalMutation CLINVAR

dbSNP: rs587777431
rs587777431
0.800 GeneticVariation UNIPROT Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 23667635

2013

dbSNP: rs587777431
rs587777431
0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484

2013

dbSNP: rs587777431
rs587777431
0.800 GeneticVariation UNIPROT Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 31192305

2019

dbSNP: rs587777431
rs587777431
0.800 GeneticVariation UNIPROT A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 31071488

2019

dbSNP: rs587777431
rs587777431
0.800 GeneticVariation UNIPROT The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 31465518

2019