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From SNPedia

rs199905054, also known as c.790C>T, p.Leu264Phe and L264F, represents a missense change in the NSMCE3 gene on chromosome 15.

When homozygous or compound heterozygous, the rare rs199905054 minor allele can lead to fatal pneumonia in children, due to a chromosome breakage syndrome tentatively named lung disease immunodeficiency and chromosome breakage syndrome (LICS).[PMID 27427983OA-icon.png]