Gene entry
ETHE1
ETHE1 persulfide dioxygenase
- Chromosome
- 19
- Cytoband
- 19q13.31
- Variants (rsID)
- 4
ETHE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.31). Its official name is “ETHE1 persulfide dioxygenase”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs119103249Pathogenicsingle nucleotide variantEthylmalonic encephalopathy
- rs28940289Pathogenicsingle nucleotide variantEthylmalonic encephalopathy
- rs201846162Uncertain significancesingle nucleotide variantEthylmalonic encephalopathy
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.