Gene: OTC ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66741318
rs66741318
OTC
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
dbSNP: rs66741318
rs66741318
OTC
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
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. 2347583

1990
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. 8099056

1993
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. 8830175

1996
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. 9065786

1997
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. 7474905

1995
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. 9143919

1997
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998
dbSNP: rs66741318
rs66741318
OTC
0.810 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
dbSNP: rs66741318
rs66741318
OTC
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
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989
dbSNP: rs66741318
rs66741318
OTC
0.810 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
dbSNP: rs66741318
rs66741318
OTC
0.810 GeneticVariation UNIPROT Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1998
dbSNP: rs66741318
rs66741318
OTC
0.810 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
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. 9286441

1997
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1998
dbSNP: rs67120076
rs67120076
OTC
0.810 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
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. 8830175

1996
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. 2347583

1990
dbSNP: rs67120076
rs67120076
OTC
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