Variant: rs119464998 

    present in Gene: FKTN
    present in Chromosome: 9
    Position on Chromosome: 105620001
    Alleles of this Variant: A/G

rs119464998 in FKTN gene and Fukuyama Type Congenital Muscular Dystrophy PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

rs119464998 in FKTN gene and Walker-Warburg congenital muscular dystrophy PMID 19179078 2009 Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

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

PMID 22275357 2012 Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.