SUGCT Chromosome 7

Succinyl-CoA:glutarate-CoA transferase
10 variants 10 Health Risk

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What This Gene Does
This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000175600
Associated Conditions (2)
Glutaryl-CoA oxidase deficiency
SUGCT-related disorder
Key Variants
All Variants (10)
RSID Category Clinical Significance Conditions
RS137852860 Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, SUGCT-related disorder, Glutaryl-CoA oxidase deficiency
RS137852862 Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS138102615 Health Risk Conflicting classifications of pathogenicity SUGCT-related disorder, SUGCT-related disorder
RS147837552 Health Risk Conflicting classifications of pathogenicity
RS193023834 Health Risk Conflicting classifications of pathogenicity
RS370031397 Health Risk Conflicting classifications of pathogenicity
RS752118948 Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS759909394 Health Risk Conflicting classifications of pathogenicity
RS2150734056 Health Risk Likely pathogenic Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS137852861 Health Risk Pathogenic Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
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