Variant (rsID / SNP)
rs137854453
rs137854453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,474,514. Clinical significance in the table: Pathogenic.
Reference-table entries
ELNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:73474514
- Cytoband
- 7q11.23
- HGVS
- NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
- Allele change
- Nonsense_R541X
Associated conditions / phenotypes
Supravalvar aortic stenosis|Cutis laxa, autosomal dominant 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.