Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001927.4(DES):c.1412A>C (p.Ter471Ser)DESLikely pathogenic2220290711220290711ACcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1371+1G>CDESPathogenic2220290468220290468GCcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1360C>T (p.Arg454Trp)DESPathogenic/Likely pathogenic2220290456220290456CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P17661#VAR_042462
single nucleotide variantNM_001927.4(DES):c.1346A>C (p.Lys449Thr)DESLikely pathogenic2220290442220290442ACcriteria provided, single submitterUniProtKB (protein):P17661#VAR_042461
single nucleotide variantNM_001927.4(DES):c.1325C>T (p.Thr442Ile)DESPathogenic2220290421220290421CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:125660.0015,UniProtKB (protein):P17661#VAR_042459
single nucleotide variantNM_001927.4(DES):c.1285C>T (p.Arg429Ter)DESPathogenic/Likely pathogenic2220288539220288539CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001927.4(DES):c.1255C>T (p.Pro419Ser)DESPathogenic/Likely pathogenic2220288509220288509CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:125660.0017,UniProtKB (protein):P17661#VAR_069074
deletionNM_001927.4(DES):c.1255_1271del (p.Pro419fs)DESPathogenic2220288506220288522TCTCCCCATCCAGACCTATcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1237G>T (p.Glu413Ter)DESPathogenic2220286275220286275GTcriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1237G>A (p.Glu413Lys)DESPathogenic/Likely pathogenic2220286275220286275GAcriteria provided, multiple submitters, no conflicts-