Variant: rs757347274 

    present in Gene: B3GALNT2
    present in Chromosome: 1
    Position on Chromosome: 235470849
    Alleles of this Variant: C/T

rs757347274 in B3GALNT2 gene and Dysmorphic features PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

rs757347274 in B3GALNT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

rs757347274 in B3GALNT2 gene and Muscle hypotonia PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.