Variant: rs1185491348 

    present in Gene: POMT2
    present in Chromosome: 14
    Position on Chromosome: 77285042
    Alleles of this Variant: CT/-

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.