rs138529143

This variant is located in the TOPBP1 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters

not provided; TOPBP1-related disorder

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About TOPBP1

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]

View all TOPBP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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