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)
duplicationNM_001267550.2(TTN):c.53703dup (p.Arg17902fs)TTNLikely pathogenic2179470318179470319GGTcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)TTNLikely pathogenic2179474050179474051CCTCcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)TTNPathogenic2179475008179475009TTAcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.48542dup (p.Asn16181fs)TTNLikely pathogenic2179480129179480130AATcriteria provided, single submitter-
deletionNM_001927.4(DES):c.226del (p.Thr76fs)DESPathogenic2220283410220283410GAGcriteria provided, single submitter-
deletionNM_001927.4(DES):c.1132_1153del (p.Lys378fs)DESPathogenic2220286168220286189CTCAAGGATGAGATGGCCCGCCACcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1237G>T (p.Glu413Ter)DESPathogenic2220286275220286275GTcriteria provided, single submitter-