Variant: rs397515785

present in Gene: LOC105370809;FBN1 present in Chromosome: 15 Position on Chromosome: 48644728 Alleles of this Variant: TAAATCCCAGG/-

rs397515785 in LOC105370809;FBN1 gene and Marfan Syndrome PMID 12068374 2002 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.