Gene entry
ECE1
endothelin converting enzyme 1
- Chromosome
- 1
- Cytoband
- 1p36.12
- Variants (rsID)
- 36
ECE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.12). Its official name is “endothelin converting enzyme 1”. The reference table lists 36 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs28368004Benignsingle nucleotide variant
- rs3026906Pathogenicsingle nucleotide variantHirschsprung disease, cardiac defects, and autonomic dysfunction
Other listed variants
- rs84853
- rs212516
- rs212524
- rs212525
- rs213019
- rs213032
- rs213045
- rs2038089
- rs2038090
- rs2282714
- rs2682369
- rs3026815
- rs3026836
- rs3026840
- rs3026866
- rs3026888
- rs3026897
- rs3026913
- rs4654916
- rs10916958
- rs28368003
- rs35536249
- rs61684599
- rs75179834
- rs114044358
- rs114987466
- rs117822555
- rs142092671
- rs144991024
- rs185424269
- rs186453862
- rs187474823
- rs199950512
- rs367812436
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.