rs764275775

This is a variant in the TYMP gene that changes a alanine to an proline.

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ClinVar annotation

Pathogenic
1 submitter2 publications

Mitochondrial DNA depletion syndrome 1

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About TYMP

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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