rs74315363

badMag 5.5

This is a protein-altering variant in the KCNQ1 gene.

Key Literature Trait Associations

Pyruvate kinase deficiency

The A allele at rs74315363 (merged into rs74315362; PKLR c.1151C>T, p.Thr384Met) is classified as pathogenic for pyruvate kinase deficiency of red cells in ClinVar, with multiple submitters and no conflicts. This rare autosomal recessive disorder causes chronic hemolytic anemia characterized by fatigue, hepatosplenomegaly, and spontaneous hemolytic crises. The variant is ultra-rare globally (gnomAD frequency ~0.000007). Clinical penetrance requires biallelic PKLR loss-of-function; heterozygous carriers are generally unaffected. The variant was originally described as 'PK Tokyo' in studies of Japanese patients with hereditary hemolytic anemia.

Harris ME et al. “Regulation of histone mRNA in the unperturbed cell cycle: evidence suggesting control at two posttranscriptional steps.” Molecular and Cellular Biology (1991)

Allele A

OR —

p —

Candidate gene study

Japanese

Gene information from NCBI Gene. Variant classifications from ClinVar.

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