Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)TTNLikely pathogenic2179429327179429327CAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.86821+2T>ATTNPathogenic/Likely pathogenic2179424036179424036ATcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.90587del (p.Lys30196fs)TTNLikely pathogenic2179417040179417040CTCcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.90778dup (p.Tyr30260fs)TTNLikely pathogenic2179416848179416849TTAcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.93897del (p.Phe31299fs)TTNPathogenic/Likely pathogenic2179412456179412456TATcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)TTNPathogenic/Likely pathogenic2179404492179404493CCTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)TTNLikely pathogenic2179398393179398393GAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)TTNLikely pathogenic2179605752179605752CAcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1013T>G (p.Leu338Arg)DESPathogenic/Likely pathogenic2220285665220285665TGcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P17661#VAR_067209
single nucleotide variantNM_001927.4(DES):c.1024A>G (p.Asn342Asp)DESPathogenic2220286062220286062AGcriteria provided, single submitterOMIM Allelic Variant:125660.0020,UniProtKB (protein):P17661#VAR_042453