Variant: rs1035791118 

    present in Gene: TPO
    present in Chromosome: 2
    Position on Chromosome: 1477563
    Alleles of this Variant: G/A

rs1035791118 in TPO gene and Deficiency of iodide peroxidase (disorder) PMID 12938097 2003 Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

PMID 16284446 2005 Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

PMID 12213873 2002 High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

PMID 11415848 2001 Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.

PMID 12843174 2003 Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

PMID 16684826 2006 Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

PMID 7550241 1995 Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

PMID 11061528 2000 Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

PMID 11916616 2002 Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.

PMID 12864797 2003 Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

PMID 11874711 2002 Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.

PMID 9024270 1997 Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.

PMID 9924196 1999 A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.

PMID 10468986 1999 A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.

PMID 12490071 2002 Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

PMID 10084596 1999 Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

PMID 27305979 2016 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.