TYMP Chromosome 22
Thymidine phosphorylase
Upload your DNA to see your personal genotypes for variants in TYMP.
What This Gene Does
This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Minor histocompatibility antigens
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000025708
Associated Conditions (8)
Mitochondrial DNA depletion syndrome 1
TYMP-related disorder
Mitochondrial neurogastrointestinal encephalomyopathy
Inborn genetic diseases
Intestinal pseudo-obstruction
Thyroid cancer
nonmedullary
1
Key Variants
RS1064792873
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS121913042
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS143789597
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, TYMP-related disorder, Mitochondrial DNA depletion syndrome 1
Health Risk
RS146922557
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS188802138
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
Health Risk
RS200497106
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200818286
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS369574115
Conflicting classifications of pathogenicity
Health Risk
RS372421189
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, TYMP-related disorder
Health Risk
RS372620403
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS372690172
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
Health Risk
RS377497287
Conflicting classifications of pathogenicity
Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1, TYMP-related disorder
Health Risk
All Variants (191)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064792879 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792880 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792881 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792885 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792886 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792887 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792888 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792889 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792890 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792891 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792892 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1085307802 | Health Risk | Pathogenic | — |
| RS11479 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1214978129 | Health Risk | Pathogenic | — |
| RS121913036 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1 |
| RS121913038 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1 |
| RS121913040 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS121913041 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1243213428 | Health Risk | Pathogenic | — |
| RS1274535844 | Health Risk | Pathogenic | — |
| RS1283883810 | Health Risk | Pathogenic | — |
| RS1344839231 | Health Risk | Pathogenic | — |
| RS1378258435 | Health Risk | Pathogenic | — |
| RS1556486029 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1556486467 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1556488264 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1556488369 | Health Risk | Pathogenic | — |
| RS1603441848 | Health Risk | Pathogenic | Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy |
| RS1603442040 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS199901350 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS2069502314 | Health Risk | Pathogenic | — |
| RS2148676984 | Health Risk | Pathogenic | — |
| RS2148677827 | Health Risk | Pathogenic | — |
| RS2148678704 | Health Risk | Pathogenic | — |
| RS2148678717 | Health Risk | Pathogenic | — |
| RS2148682758 | Health Risk | Pathogenic | — |
| RS2148683231 | Health Risk | Pathogenic | — |
| RS2522501407 | Health Risk | Pathogenic | — |
| RS2522504977 | Health Risk | Pathogenic | — |
| RS2522505701 | Health Risk | Pathogenic | — |
| RS2522506284 | Health Risk | Pathogenic | — |
| RS2522512318 | Health Risk | Pathogenic | — |
| RS2522525853 | Health Risk | Pathogenic | — |
| RS2522530428 | Health Risk | Pathogenic | — |
| RS2522539460 | Health Risk | Pathogenic | — |
| RS2522546653 | Health Risk | Pathogenic | — |
| RS2522547175 | Health Risk | Pathogenic | — |
| RS2522547504 | Health Risk | Pathogenic | — |
| RS2522547664 | Health Risk | Pathogenic | — |
| RS2522550176 | Health Risk | Pathogenic | — |