rs118204084

This is a variant in the PKLR gene that changes a glutamine to an lysine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Pyruvate kinase deficiency of red cells (CNSHA2)

About PKLR

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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