rs137853204

This is a variant in the AK1 gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Hemolytic anemia due to adenylate kinase deficiency (CNSHA3)

About AK1

This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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