|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
|
28455095 |
2017 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.
|
26709262 |
2016 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
|
27084275 |
2016 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The previously reported hotspot mutation p.R450H was found in only one SCH patient.
|
27637299 |
2016 |
|
rs189261858
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.
|
26709262 |
2016 |
|
rs189261858
|
|
|
0.740 |
GeneticVariation |
BEFREE |
He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism.
|
25928756 |
2015 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
|
24895636 |
2014 |
|
rs189261858
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H).
|
22405933 |
2012 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%.
|
22405933 |
2012 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
|
21677043 |
2011 |
|
rs189261858
|
|
A |
0.740 |
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 |
0.740 |
CausalMutation |
CLINVAR |
Homozygous mutation R450H of the TSHR gene led to CH.
|
21714469 |
2010 |
|
rs189261858
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Homozygous mutation R450H of the TSHR gene led to CH.
|
21714469 |
2010 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
|
19506388 |
2009 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.
|
23926367 |
2009 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
In Japan, TSHR mutations are relatively common among patients with CH, and a founder mutation (p.R450H) accounts for about 70% of mutants.
|
19158199 |
2009 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
|
17526952 |
2006 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
|
15693879 |
2005 |
|
rs189261858
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |
|
rs786204790
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.
|
23404215 |
2013 |
|
rs1057518345
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518950
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs530719719
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs560702757
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|