Variant: rs104894680 

    present in Gene: FKRP
    present in Chromosome: 19
    Position on Chromosome: 46756604
    Alleles of this Variant: C/A;G;T

rs104894680 in FKRP gene and Walker-Warburg congenital muscular dystrophy PMID 12707425 2003 The phenotype of limb-girdle muscular dystrophy type 2I.

PMID 14742276 2004 Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.