Variant: rs746763506 

    present in Gene: FKTN
    present in Chromosome: 9
    Position on Chromosome: 105604452
    Alleles of this Variant: C/T

rs746763506 in FKTN gene and Fukuyama Type Congenital Muscular Dystrophy PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

rs746763506 in FKTN gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

rs746763506 in FKTN gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.