Variant: rs386834034 

    present in Gene: POMGNT1;TSPAN1
    present in Chromosome: 1
    Position on Chromosome: 46194853
    Alleles of this Variant: G/A;T

rs386834034 in POMGNT1;TSPAN1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

rs386834034 in POMGNT1;TSPAN1 gene and Muscle eye brain disease PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

rs386834034 in POMGNT1;TSPAN1 gene and Pachygyria PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and Polymicrogyria PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and RETINITIS PIGMENTOSA 76 PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

rs386834034 in POMGNT1;TSPAN1 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and Severe intellectual disability PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.