Variant: rs573518562 

    present in Gene: TSPAN1;POMGNT1
    present in Chromosome: 1
    Position on Chromosome: 46192147
    Alleles of this Variant: C/T

rs573518562 in TSPAN1;POMGNT1 gene and Dysmorphic features PMID 18195152 2008 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

PMID 24120487 2013 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

PMID 22419172 2012 Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.