rs34098037

This variant is located in the TOP3A gene.

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

not provided; TOP3A-related disorder; not specified

About TOP3A

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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