TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777431
rs587777431
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.800 GeneticVariation UNIPROT Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 31192305 2019
dbSNP: rs587777431
rs587777431
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		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
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		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
dbSNP: rs587777431
rs587777431
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.800 GeneticVariation UNIPROT Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 23667635 2013
dbSNP: rs587777431
rs587777431
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484 2013
dbSNP: rs587777431
rs587777431
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		G 0.800 CausalMutation CLINVAR