OTC Chromosome X

Ornithine transcarbamylase
368 variants 368 Health Risk

Upload your DNA to see your personal genotypes for variants in OTC.

What This Gene Does
This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]
Associated Conditions (14)
Ornithine carbamoyltransferase deficiency
Inborn genetic diseases
OTC-related disorder
Global developmental delay
Hyperammonemia
Likely inborn error of metabolism
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
See cases
Abnormal circulating ornithine concentration
Protein avoidance
Squamous cell carcinoma of the head and neck
Key Variants
RS1051365488
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS1052206430
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS1168053730
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS1357402422
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS137899554
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS141273695
Conflicting classifications of pathogenicity
OTC-related disorder, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
Health Risk
RS1461226043
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS148660170
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS1555972495
Conflicting classifications of pathogenicity
Health Risk
RS1555972538
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
Health Risk
RS1555975685
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS184053962
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
All Variants (368)
RSID Category Clinical Significance Conditions
RS1051365488 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1052206430 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1168053730 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS1357402422 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS137899554 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS141273695 Health Risk Conflicting classifications of pathogenicity OTC-related disorder, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS1461226043 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS148660170 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS1555972495 Health Risk Conflicting classifications of pathogenicity —
RS1555972538 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS1555975685 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS184053962 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS201802621 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068487136 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147341270 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147349974 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519975343 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519986961 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS375524303 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Hyperammonemia, Ornithine carbamoyltransferase deficiency
RS66469337 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS67486158 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554347 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556272 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, OTC-related disorder
RS72558410 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558412 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558413 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558416 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Likely inborn error of metabolism
RS72558440 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558456 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558491 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558495 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS747637190 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS752916728 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS753712951 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS756772340 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS758684873 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS759911602 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS762910963 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
RS766735977 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS777210088 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS794727959 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS796052013 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS796052014 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS924740805 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1064796335 Health Risk Likely pathogenic —
RS1131691517 Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555970997 Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555971000 Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555971001 Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1569270890 Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
1 2 3 4 ... 8 Next »
Sign Up to Analyze Your DNA Log In