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.6412_6441del (p.Lys2138_Gly2147del)FBN1Likely pathogenic154872921348729242AACCATCTGTATTGATGCACTGTCCATGTTTAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)FBN1Likely pathogenic154873766548737665CTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser)FBN1Pathogenic154873768948737689CGcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe)FBN1Pathogenic154874097048740970CAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter)FBN1Pathogenic154874476848744768GAcriteria provided, single submitter-
IndelNM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs)FBN1Pathogenic154874889248748894GCTAGTCcriteria provided, single submitter-
DuplicationNM_000138.5(FBN1):c.5066-9_5086dupFBN1Likely pathogenic154875541648755417TTAGCACAAACTTCTTCTCATATCTAGAAGGGcriteria provided, single submitter-
DeletionNM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)FBN1Pathogenic154876646348766485GAAGCCATCACCTGTGTATCCTTCGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000138.5(FBN1):c.3952dup (p.Thr1318fs)FBN1Pathogenic154877386348773864GGTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile)FBN1Pathogenic154877934348779343TAcriteria provided, single submitter-