rs374048479
This variant is located in the PHYKPL gene.
▶ClinVar annotation
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]
View all PHYKPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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