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Mutation Report for: IVS46-1G>A_human-TG

IVS46-1G>A_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|g.IVS46-1G>A a splicing site mutation of intron 46 skipping of exon 46, compound heterozygous for R296X (p.R277X) and g.IVS46-1G>A
    Kinetic parameters|none


    References:
      Title: The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
      Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G
      Ref: J Clinical Endocrinology Metab, 94:2938, 2009 : PubMed

              




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