Variant (rsID / SNP)

rs201012726

rs201012726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,462,020. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:73462020
Cytoband: 7q11.23
HGVS: NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
Allele change: Missense_P220L

Associated conditions / phenotypes

Cutis laxa, autosomal dominant 1|Supravalvar aortic stenosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.