Variant: rs121912648 

    present in Gene: TG
    present in Chromosome: 8
    Position on Chromosome: 132882609
    Alleles of this Variant: C/T

rs121912648 in TG gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs121912648 in TG gene and Thyroid Dyshormonogenesis 3 PMID 23164529 2013 New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

PMID 15769978 2005 A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

PMID 14764776 2004 Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

PMID 10404833 1999 A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

PMID 20410234 2010 New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

PMID 21128992 2011 A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism.