rs76797003

This variant is located in the DCLRE1C gene.

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ClinVar annotation

Likely Benign★☆☆☆

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About DCLRE1C

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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