Knowledge base for genomic medicine in Japanese
ウィルソン病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_000053.4(ATP7B):c.2304del (p.Met769fs)ATP7BPathogenic135253249852532498TGTcriteria provided, multiple submitters, no conflicts-
deletionNM_000053.4(ATP7B):c.3402del (p.Ala1135fs)ATP7BPathogenic135251653252516532CGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)ATP7BPathogenic135254844152548441ATcriteria provided, multiple submitters, no conflictsHGMD:CM980165
single nucleotide variantNM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)ATP7BPathogenic135251828152518281GTcriteria provided, multiple submitters, no conflictsHGMD:CM930059,OMIM Allelic Variant:606882.0002,OMIM Allelic Variant:606882.0006,UniProtKB (protein):P35670#VAR_000758
single nucleotide variantNM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)ATP7BPathogenic135251171952511719CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0007,UniProtKB (protein):P35670#VAR_009028
single nucleotide variantNM_000053.4(ATP7B):c.1708-1G>CATP7BPathogenic/Likely pathogenic135253917052539170CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0008
single nucleotide variantNM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)ATP7BPathogenic135253246952532469CAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0009,UniProtKB (protein):P35670#VAR_000728
single nucleotide variantNM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)ATP7BPathogenic135253250952532509CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0012,UniProtKB (protein):P35670#VAR_000724
single nucleotide variantNM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)ATP7BPathogenic135252383652523836CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0013,UniProtKB (protein):P35670#VAR_000745
single nucleotide variantNM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)ATP7BPathogenic135252390852523908GCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606882.0014,UniProtKB (protein):P35670#VAR_000739