Variant: rs104894679 

    present in Gene: FKRP
    present in Chromosome: 19
    Position on Chromosome: 46756376
    Alleles of this Variant: A/G

rs104894679 in FKRP gene and MUSCULAR DYSTROPHY, CONGENITAL, 1C PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 12654965 2003 FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

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.

PMID 17336067 2007 A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.