Variant: rs1554680190 

    present in Gene: ELN
    present in Chromosome: 7
    Position on Chromosome: 74056714
    Alleles of this Variant: G/T

rs1554680190 in ELN gene and Dysmorphic features PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

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

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

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

rs1554680190 in ELN gene and Muscle hypotonia PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

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

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

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