rs67468335
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs67501347
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs67870244
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs67954347
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs68033093
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs68026851
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
In two unrelated male probands with neonatal onset of severe OTC deficiency, a guanine (G) to adenine (A) mutation on the sense strand (antisense cytosine [C] to thymine [T]) was found, resulting in glutamine for arginine at amino acid 109 of the mature polypeptide.
|
3170748 |
1988 |
rs66741318
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs67120076
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554308
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558454
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs66550389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs67486158
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs68031618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554307
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554312
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554331
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554338
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72554345
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72556260
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72556271
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558412
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558417
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558423
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558449
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |
rs72558465
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
|
3170748 |
1988 |