|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
|
11793483 |
2002 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
|
10737985 |
2000 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
|
10070627 |
1999 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
|
10502831 |
1999 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
|
9452065 |
1998 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
|
9452024 |
1998 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
|
9143919 |
1997 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
|
9065786 |
1997 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
|
9286441 |
1997 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
In addition, we found a G-to-A transition in codon 141 in exon 5 causing substitution of glutamine for arginine (R141Q) in a female obligate heterozygote whose previous three sons succumbed to acute neonatal-onset OTC deficiency.
|
8830175 |
1996 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
|
8807340 |
1996 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
|
8956045 |
1996 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
|
7474905 |
1995 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
|
8530002 |
1995 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
|
8081373 |
1994 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
|
8081398 |
1994 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
|
8099056 |
1993 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
|
2347583 |
1990 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.
|
2474822 |
1989 |
|
rs68026851
|
|
Ornithine carbamoyltransferase deficiency
|
|
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
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs66741318
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
|
11793483 |
2002 |
|
rs66741318
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
|
10737985 |
2000 |
|
rs66741318
|
|
Ornithine carbamoyltransferase deficiency
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
|
10502831 |
1999 |