Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72558454
rs72558454
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: rs67120076
rs67120076
OTC
0.810 GeneticVariation UNIPROT Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. 1721894

1992

dbSNP: rs72558454
rs72558454
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

dbSNP: rs72558417
rs72558417
OTC
0.800 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999

dbSNP: rs72554308
rs72554308
OTC
0.800 GeneticVariation UNIPROT Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. 8956038

1997

dbSNP: rs68026851
rs68026851
OTC
0.800 GeneticVariation UNIPROT Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. 8830175

1996

dbSNP: rs72558417
rs72558417
OTC
0.800 GeneticVariation UNIPROT A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency. 8530002

1996

dbSNP: rs72558417
rs72558417
OTC
0.800 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: rs66656800
rs66656800
OTC
0.800 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

dbSNP: rs66656800
rs66656800
OTC
0.800 GeneticVariation UNIPROT Seven new mutations in the human ornithine transcarbamylase gene. 7951259

1994

dbSNP: rs72554308
rs72554308
OTC
0.800 GeneticVariation UNIPROT Seven new mutations in the human ornithine transcarbamylase gene. 7951259

1994

dbSNP: rs66469337
rs66469337
OTC
0.800 GeneticVariation UNIPROT Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. 1480464

1993

dbSNP: rs72554331
rs72554331
OTC
0.800 GeneticVariation UNIPROT Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. 1480464

1993

dbSNP: rs72554345
rs72554345
OTC
0.800 GeneticVariation UNIPROT Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. 1480464

1993

dbSNP: rs72556260
rs72556260
OTC
0.800 GeneticVariation UNIPROT Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. 8099056

1993

dbSNP: rs72558465
rs72558465
OTC
0.800 GeneticVariation UNIPROT Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. 1480464

1993

dbSNP: rs68026851
rs68026851
OTC
0.800 GeneticVariation UNIPROT An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. 2556444

1990

dbSNP: rs68031618
rs68031618
OTC
0.800 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989

dbSNP: rs72554312
rs72554312
OTC
0.800 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989

dbSNP: rs72558423
rs72558423
OTC
0.800 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989

dbSNP: rs68026851
rs68026851
OTC
0.800 GeneticVariation UNIPROT Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 3170748

1988

dbSNP: rs66626662
rs66626662
OTC
0.800 GeneticVariation UNIPROT

dbSNP: rs67486158
rs67486158
OTC
0.800 GeneticVariation UNIPROT

dbSNP: rs72554307
rs72554307
OTC
0.800 GeneticVariation UNIPROT