Variant: rs119103258 

    present in Gene: PYGM;RASGRP2
    present in Chromosome: 11
    Position on Chromosome: 64746796
    Alleles of this Variant: A/G;T

rs119103258 in PYGM;RASGRP2 gene and Glycogen Storage Disease Type V PMID 29143597 2017 Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

PMID 22250184 2012 Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

PMID 17994553 2008 Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

PMID 17630210 2007 Genotype modulators of clinical severity in McArdle disease.

PMID 10590419 2000 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 11706962 2001 Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

PMID 10681080 2000 A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.