Knowledge base for genomic medicine in Japanese
皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)NOTCH3Pathogenic191530294515302945GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600276.0002,UniProtKB (protein):Q9UM47#VAR_012880
single nucleotide variantNM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)NOTCH3Pathogenic191530290615302906GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600276.0003,UniProtKB (protein):Q9UM47#VAR_012883
single nucleotide variantNM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)NOTCH3Pathogenic191529981515299815AGcriteria provided, single submitterOMIM Allelic Variant:600276.0006,UniProtKB (protein):Q9UM47#VAR_044302
single nucleotide variantNM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)NOTCH3Pathogenic191530227715302277GAcriteria provided, single submitterOMIM Allelic Variant:600276.0007,UniProtKB (protein):Q9UM47#VAR_044289
single nucleotide variantNM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)NOTCH3Pathogenic/Likely pathogenic191530305315303053GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600276.0008,UniProtKB (protein):Q9UM47#VAR_012876
single nucleotide variantNM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)NOTCH3Pathogenic191527219215272192TAcriteria provided, single submitterOMIM Allelic Variant:600276.0017
single nucleotide variantNM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)NOTCH3Pathogenic191530299315302993GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q9UM47#VAR_012879
single nucleotide variantNM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)NOTCH3Pathogenic191527170715271707GTcriteria provided, single submitterOMIM Allelic Variant:600276.0015
duplicationNM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)NOTCH3Pathogenic191527174615271747TTGcriteria provided, single submitterOMIM Allelic Variant:600276.0014
single nucleotide variantNM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)NOTCH3Pathogenic191527177615271776GCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600276.0016