Gene entry
ECEL1
endothelin converting enzyme like 1
- Chromosome
- 2
- Cytoband
- 2q37.1
- Variants (rsID)
- 7
ECEL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.1). Its official name is “endothelin converting enzyme like 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs41265123Benignsingle nucleotide variant
- rs370167241Pathogenicsingle nucleotide variantDistal arthrogryposis type 5D|See cases
- rs587776917PathogenicDuplicationDistal arthrogryposis type 5D
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.