present in Gene: THRA
present in Chromosome: 17
Position on Chromosome: 40089359
Alleles of this Variant: C/-
rs746765465 in
THRA gene and
Dysmorphic features
PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.
PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.
PMID 22494134 2012 Clinical phenotype and mutant TRα1.
PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
rs746765465 in
THRA gene and
Muscle hypotonia
PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.
PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
PMID 22494134 2012 Clinical phenotype and mutant TRα1.
PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.