Gene entry
ETFDH
electron transfer flavoprotein dehydrogenase
- Chromosome
- 4
- Cytoband
- 4q32.1
- Variants (rsID)
- 19
ETFDH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q32.1). Its official name is “electron transfer flavoprotein dehydrogenase”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs11559290Benignsingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2C
- rs146561214Benignsingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency
- rs147219158Conflicting interpretationssingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency|Hypertrophic cardiomyopathy
- rs780768015Conflicting interpretationssingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency
- rs62351198Likely benignsingle nucleotide variant
- rs77408245Likely benignsingle nucleotide variant
- rs121964953Pathogenicsingle nucleotide variantGlutaric acidemia IIc
- rs121964954Pathogenicsingle nucleotide variantGlutaric acidemia IIc|Multiple acyl-CoA dehydrogenase deficiency
- rs200920510Pathogenicsingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency
- rs377656387Pathogenicsingle nucleotide variantGlutaric acidemia iic, late-onset|Multiple acyl-CoA dehydrogenase deficiency|Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II|Glutaric acidemia type 2C
- rs377686388Pathogenicsingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia type 2C
- rs398124151Pathogenicsingle nucleotide variantMultiple acyl-CoA dehydrogenase deficiency
- rs371260517Uncertain significancesingle nucleotide variantGlutaric acidemia type 2C
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.