rs375543423

This variant is located in the RECQL5 gene.

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ClinVar annotation

Likely Benign
1 submitter

RECQL5-related disorder

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About RECQL5

The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

View all RECQL5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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