Variant: rs199922550 

    present in Gene: RNF123;GMPPB
    present in Chromosome: 3
    Position on Chromosome: 49721847
    Alleles of this Variant: C/T

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.