Variant: rs121908863 

    present in Gene: TSHR;LOC101928462
    present in Chromosome: 14
    Position on Chromosome: 81092547
    Alleles of this Variant: C/A;G;T

rs121908863 in TSHR;LOC101928462 gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 PMID 9185526 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

PMID 7528344 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.

PMID 10720030 2000 Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.

PMID 11095460 2000 A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

PMID 12050212 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

PMID 14725684 2004 Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.

PMID 9100579 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

PMID 9329388 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

PMID 8954020 1996 Four families with loss of function mutations of the thyrotropin receptor.

PMID 15531543 2004 Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 25978107 2015 Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.