Variant: rs121918686 

    present in Gene: THRB
    present in Chromosome: 3
    Position on Chromosome: 24127610
    Alleles of this Variant: C/A;G;T

rs121918686 in THRB gene and THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT PMID 7833659 1994 Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.

PMID 1619012 1992 A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.

PMID 16804041 2006 Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

PMID 2510172 1989 Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

PMID 8889584 1996 Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.

PMID 1324420 1992 A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.

PMID 8175986 1994 A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.

PMID 8514853 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.

PMID 1661299 1991 "Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two ""hot spot"" regions of the ligand binding domain."

PMID 8664910 1996 New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.

PMID 2153155 1990 A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

PMID 1587388 1992 A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.

PMID 10660344 1998 T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.

PMID 12554782 2003 Two resistance to thyroid hormone mutants with impaired hormone binding.

PMID 19268523 2009 Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

PMID 12511610 2003 Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain.

PMID 1846005 1991 A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

PMID 1314846 1992 An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.

PMID 1563081 1992 Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.