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.48542dup (p.Asn16181fs)TTNLikely pathogenic2179480129179480130AATcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)TTNPathogenic2179475008179475009TTAcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)TTNLikely pathogenic2179474050179474051CCTCcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.53703dup (p.Arg17902fs)TTNLikely pathogenic2179470318179470319GGTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)TTNLikely pathogenic2179469027179469027CTcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)TTNLikely pathogenic2179463944179463956GATTCGGAATACATGcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)TTNLikely pathogenic2179463654179463654GTcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.58620del (p.Val19541fs)TTNLikely pathogenic2179458407179458407CTCcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)TTNLikely pathogenic2179455128179455128CAcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)TTNLikely pathogenic2179454694179454695TACTcriteria provided, single submitter-