Variant: rs794729201 

    present in Gene: ELN
    present in Chromosome: 7
    Position on Chromosome: 74068685
    Alleles of this Variant: C/-

rs794729201 in ELN gene and Cutis Laxa, Autosomal Dominant PMID 9215671 1997 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.