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: rs67120076
rs67120076
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: rs72554308
rs72554308
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: rs72558454
rs72558454
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 Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. 10737985

2000
dbSNP: rs67120076
rs67120076
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: rs72554308
rs72554308
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: rs72558454
rs72558454
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 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 Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999
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 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: rs72554308
rs72554308
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: rs72554308
rs72554308
OTC
0.810 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999
dbSNP: rs72558454
rs72558454
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: rs72558454
rs72558454
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 Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998
dbSNP: rs66741318
rs66741318
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 Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1998
dbSNP: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998
dbSNP: rs72554308
rs72554308
OTC
0.810 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998
dbSNP: rs72554308
rs72554308
OTC
0.810 GeneticVariation UNIPROT Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1998
dbSNP: rs72558454
rs72558454
OTC
0.810 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998
dbSNP: rs72558454
rs72558454
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 The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. 9286441

1997