Gene entry
ELN
elastin
- Chromosome
- 7
- Cytoband
- 7q11.23
- Variants (rsID)
- 15
ELN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q11.23). Its official name is “elastin”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs2071307Benignsingle nucleotide variantSupravalvar aortic stenosis|Cutis laxa, autosomal dominant
- rs41511151Benignsingle nucleotide variantCutis laxa, autosomal dominant|Supravalvar aortic stenosis
- rs201012726Conflicting interpretationssingle nucleotide variantCutis laxa, autosomal dominant 1|Supravalvar aortic stenosis
- rs369804770Conflicting interpretationssingle nucleotide variantCutis laxa, autosomal dominant 1|Supravalvar aortic stenosis
- rs727503032Conflicting interpretationssingle nucleotide variant
- rs137854452Pathogenicsingle nucleotide variantSupravalvar aortic stenosis
- rs137854453Pathogenicsingle nucleotide variantSupravalvar aortic stenosis|Cutis laxa, autosomal dominant 1
- rs200862792Pathogenicsingle nucleotide variantSupravalvar aortic stenosis
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.