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.1571del (p.Thr524fs)FBN1Pathogenic154880576348805763CGCcriteria provided, multiple submitters, no conflictsClinGen:CA10587857
DuplicationNM_000138.5(FBN1):c.1570dup (p.Thr524fs)FBN1Pathogenic154880576348805764GGTcriteria provided, multiple submitters, no conflictsClinGen:CA645373009
single nucleotide variantNM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)FBN1Pathogenic154880577648805776GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)FBN1Pathogenic154880577848805778TCreviewed by expert panel-
single nucleotide variantNM_000138.5(FBN1):c.1552G>A (p.Gly518Arg)FBN1Likely pathogenic154880578248805782CTcriteria provided, single submitterClinGen:CA012241
single nucleotide variantNM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)FBN1Pathogenic154880578848805788GAcriteria provided, multiple submitters, no conflictsClinGen:CA012230
single nucleotide variantNM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)FBN1Likely pathogenic154880579648805796CAreviewed by expert panelClinGen:CA16614674
single nucleotide variantNM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)FBN1Likely pathogenic154880579648805796CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr)FBN1Likely pathogenic154880579648805796CTcriteria provided, single submitter-
DuplicationNM_000138.5(FBN1):c.1537dup (p.Cys513fs)FBN1Pathogenic154880579648805797CCAcriteria provided, single submitter-