rs201105857

This is a variant in the PHYKPL gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Phosphohydroxylysinuria (PHLU)

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About PHYKPL

This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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