rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
|
23940126 |
2013 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
|
23940126 |
2013 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
|
23633213 |
2013 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
|
23633213 |
2013 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
|
23633213 |
2013 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation |
CLINVAR |
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
|
23940126 |
2013 |
rs1555545033
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical phenotype and mutant TRα1.
|
22494134 |
2012 |
rs1555545033
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555545033
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
|
0.700 |
GeneticVariation |
UNIPROT |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
rs1555545033
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and mutant TRα1.
|
22494134 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and mutant TRα1.
|
22494134 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and mutant TRα1.
|
22494134 |
2012 |
rs746765465
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs137853162
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853163
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199530759
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876657394
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876657395
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876657396
|
Entrez Id: |
7067 |
Gene Symbol: |
THRA |
THRA
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|