Variant: rs193919335 

    present in Gene: TSPAN1;POMGNT1
    present in Chromosome: 1
    Position on Chromosome: 46190473
    Alleles of this Variant: C/A;T

rs193919335 in TSPAN1;POMGNT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 PMID 15207699 2004 Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.

PMID 12588800 2003 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

rs193919335 in TSPAN1;POMGNT1 gene and Muscle eye brain disease PMID 12788071 2003 Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

PMID 12849864 2003 Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.