rs763493743

This variant is located in the HMGCLL1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

View on ClinVar →

About HMGCLL1

Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all HMGCLL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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