Variant (rsID / SNP)
rs2071307
rs2071307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,470,714. Clinical significance in the table: Benign.
Reference-table entries
ELNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:73470714
- Cytoband
- 7q11.23
- HGVS
- NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
- Allele change
- Missense_G422S
Associated conditions / phenotypes
Supravalvar aortic stenosis|Cutis laxa, autosomal dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.