rs1848415323
This variant is located in the HK1 gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout HK1
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
View all HK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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