Variant: rs190057175 

    present in Gene: POMGNT1;TSPAN1
    present in Chromosome: 1
    Position on Chromosome: 46194860
    Alleles of this Variant: G/A

rs190057175 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

rs190057175 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

rs190057175 in POMGNT1;TSPAN1 gene and Muscle eye brain disease PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

rs190057175 in POMGNT1;TSPAN1 gene and RETINITIS PIGMENTOSA 76 PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.