Variant: rs119463990 

    present in Gene: FKTN
    present in Chromosome: 9
    Position on Chromosome: 105596631
    Alleles of this Variant: C/T

rs119463990 in FKTN gene and Walker-Warburg congenital muscular dystrophy PMID 25814170 2015 Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

PMID 19179078 2009 Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

PMID 9690476 1998 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

PMID 20961758 2011 Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.