Knowledge base for genomic medicine in Japanese
マルファン症候群
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000138.5(FBN1):c.2143_2161del (p.Pro715fs)FBN1Pathogenic154879118848791206CCTGCTGACGTCATTCCTGGCcriteria provided, single submitter-
DuplicationNM_000138.5(FBN1):c.2379dup (p.Lys794fs)FBN1Pathogenic154878833648788337TTGcriteria provided, single submitter-
DuplicationNM_000138.5(FBN1):c.2410dup (p.Thr804fs)FBN1Pathogenic154878830548788306GGTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr)FBN1Pathogenic154878830248788302CTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2495G>C (p.Cys832Ser)FBN1Pathogenic154878771048787710CGcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2623T>A (p.Cys875Ser)FBN1Pathogenic154878737448787374ATcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)FBN1Pathogenic154878734848787348CTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2719C>T (p.Gln907Ter)FBN1Pathogenic154878641048786410GAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.2740T>C (p.Cys914Arg)FBN1Likely pathogenic154878477248784772AGcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter)FBN1Pathogenic154878207848782078CAcriteria provided, single submitter-