Knowledge base for genomic medicine in Japanese
マルファン症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000138.4(FBN1):c.8512A>T (p.Lys2838Ter)FBN1Pathogenic154870329148703291TAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.7204G>A (p.Asp2402Asn)FBN1Likely pathogenic154871976448719764CTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.1589-9T>AFBN1Pathogenic154880237548802375ATcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.7330+3_7330+6delFBN1Likely pathogenic154871793048717933CACTTCcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.1379G>A (p.Cys460Tyr)FBN1Likely pathogenic154880767348807673CTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.1538G>A (p.Cys513Tyr)FBN1Likely pathogenic154880579648805796CTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2344A>T (p.Arg782Ter)FBN1Likely pathogenic154878837248788372TAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2534G>C (p.Cys845Ser)FBN1Likely pathogenic154878767148787671CGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.4925A>G (p.Asp1642Gly)FBN1Likely pathogenic154875778248757782TCcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.5541C>A (p.Cys1847Ter)FBN1Likely pathogenic154874476348744763GTcriteria provided, single submitter-