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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