|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
|
rs121912649
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
|
rs121912650
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
|
rs137854434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
|
rs2076739
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
|
rs121912649
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|