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)
single nucleotide variantNM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)ATP7BPathogenic135252386852523868GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)ATP7BPathogenic/Likely pathogenic135253250552532505GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)ATP7BPathogenic135254464052544640GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)ATP7BPathogenic/Likely pathogenic135254838652548386TAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000053.4(ATP7B):c.802_808del (p.Cys268fs)ATP7BPathogenic135254854852548554GACTTACAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)ATP7BPathogenic/Likely pathogenic135250983152509831CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)ATP7BPathogenic/Likely pathogenic135251163152511631GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)ATP7BPathogenic135251840952518409CGcriteria provided, single submitter-
single nucleotide variantNM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)ATP7BPathogenic/Likely pathogenic135252421152524211TGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000053.4(ATP7B):c.2510dup (p.Phe839fs)ATP7BPathogenic135252447252524473TTCcriteria provided, multiple submitters, no conflicts-