rs2040449660

This variant is located in the SLX4 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

Fanconi anemia complementation group P; Fanconi anemia

About SLX4

This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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