TYMP Chromosome 22

Thymidine phosphorylase
191 variants 191 Health Risk

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
RS1064792873 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS121913042 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS143789597 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder, Mitochondrial DNA depletion syndrome 1
RS146922557 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS188802138 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
RS200497106 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200818286 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS369574115 Health Risk Conflicting classifications of pathogenicity —
RS372421189 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, TYMP-related disorder
RS372620403 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS372690172 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS377497287 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1, TYMP-related disorder
RS377572658 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541592631 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549324764 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
RS551975117 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Inborn genetic diseases, Mitochondrial neurogastrointestinal encephalomyopathy
RS552829713 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS570047465 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS570438867 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS570574111 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS750707642 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751803871 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS752137335 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS753922795 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS754615215 Health Risk Conflicting classifications of pathogenicity —
RS759173369 Health Risk Conflicting classifications of pathogenicity —
RS762630777 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder, Mitochondrial DNA depletion syndrome 1
RS764142194 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS767063709 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770533125 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS772501604 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS773100466 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS778306525 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder, Mitochondrial DNA depletion syndrome 1
RS780690561 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intestinal pseudo-obstruction, Inborn genetic diseases
RS780757016 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS781153870 Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS786205559 Health Risk Conflicting classifications of pathogenicity —
RS797044455 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS863224247 Health Risk Conflicting classifications of pathogenicity —
RS863224248 Health Risk Conflicting classifications of pathogenicity —
RS863224250 Health Risk Conflicting classifications of pathogenicity —
RS863224252 Health Risk Conflicting classifications of pathogenicity —
RS886057633 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS886057635 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS946234163 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1064792855 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1064792861 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1064792864 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1064792865 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1064792867 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
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