Variant: rs12118058 

    present in Gene: AGL
    present in Chromosome: 1
    Position on Chromosome: 99916709
    Alleles of this Variant: C/G;T

rs12118058 in AGL gene and Glycogen Storage Disease PMID 8990006 1997 A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.

PMID 26984562 2016 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

PMID 25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

PMID 9412782 1998 A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

rs12118058 in AGL gene and Glycogen Storage Disease Type III PMID 23430490 2013 Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

PMID 20071996 2010 The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

PMID 20490926 2010 Glycogen storage disease type III in the Irish population.

PMID 17994282 2007 Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

PMID 29374762 2018 Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

PMID 8990006 1997 A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.