Knowledge base for genomic medicine in Japanese
マルファン症候群
循環器・内分泌疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000138.4(FBN1):c.2217T>G (p.Cys739Trp)FBN1Pathogenic154878953948789539ACcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2761T>C (p.Cys921Arg)FBN1Pathogenic154878475148784751AGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2438C>G (p.Ser813Ter)FBN1Pathogenic154878776748787767GCcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)FBN1Pathogenic154893691848936927AAAAGCACGGTAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2849G>C (p.Cys950Ser)FBN1Pathogenic154878466348784663CGcriteria provided, single submitter-