|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
|
25978107 |
2015 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
|
15531543 |
2004 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
|
14725684 |
2004 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
|
12050212 |
2002 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
|
10720030 |
2000 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
11095460 |
2000 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
|
9329388 |
1997 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
|
9185526 |
1997 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.
|
9100579 |
1997 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four families with loss of function mutations of the thyrotropin receptor.
|
8954020 |
1996 |
|
rs121908863
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
|
7528344 |
1995 |
|
rs121908863
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
|
27637299 |
2016 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
|
22876533 |
2012 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
|
21707688 |
2011 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
|
21677043 |
2011 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
|
21714469 |
2010 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
|
19506388 |
2009 |
|
rs189261858
|
|
|
0.710 |
GeneticVariation |
BEFREE |
These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan.
|
16756469 |
2006 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
|
15693879 |
2005 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |
|
rs121908872
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.
|
27255745 |
2016 |
|
rs121908872
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
|
22876533 |
2012 |