Variant: rs530719719 

    present in Gene: DUOX2
    present in Chromosome: 15
    Position on Chromosome: 45101228
    Alleles of this Variant: ACGA/-

rs530719719 in DUOX2 gene and Dysmorphic features PMID 28666341 2017 DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

PMID 24735383 2014 Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.

PMID 19789206 2009 Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.

PMID 21900383 2011 Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

PMID 27108200 2016 Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

PMID 20187165 2010 Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.

PMID 18765513 2008 Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

PMID 23457309 2013 Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.

PMID 21565790 2011 Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.

PMID 16134168 2005 Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

PMID 17121535 2006 Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

PMID 17374849 2007 Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.

PMID 24423310 2014 The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

PMID 12110737 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

PMID 16322276 2006 Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.

rs530719719 in DUOX2 gene and Familial thyroid dyshormonogenesis PMID 21565790 2011 Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.

PMID 28666341 2017 DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

PMID 24423310 2014 The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

PMID 27821020 2017 DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

PMID 20972728 2010 Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

PMID 12110737 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

PMID 26990548 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

PMID 16322276 2006 Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.

PMID 30240412 2018 High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.