Variant: rs370991693 

    present in Gene: LOC105375768;TG
    present in Chromosome: 8
    Position on Chromosome: 133017916
    Alleles of this Variant: C/A

rs370991693 in LOC105375768;TG gene and Thyroid Dyshormonogenesis 3 PMID 17532758 2007 Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

PMID 17244789 2007 Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

PMID 10199792 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

PMID 16477365 2006 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

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

PMID 19509106 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.