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)
DeletionNC_000013.11:g.(?_51937256)_(51939213_?)delATP7BLikely pathogenic135251139252513349nanacriteria provided, single submitter-
single nucleotide variantNM_000053.4(ATP7B):c.3243+2T>CATP7BLikely pathogenic135251824352518243AGcriteria provided, single submitter-
DeletionNC_000013.11:g.(?_51944089)_(51946498_?)delATP7BPathogenic135251822552520634nanacriteria provided, single submitter-
DeletionNM_000053.4(ATP7B):c.213_214del (p.Val73fs)ATP7BPathogenic135254914252549143CATCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)ATP7BPathogenic135254819752548198ACCAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer)ATP7BPathogenic135253265752532657CGCcriteria provided, single submitter-
single nucleotide variantNM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)ATP7BPathogenic/Likely pathogenic135253250252532502GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000053.4(ATP7B):c.2510dup (p.Phe839fs)ATP7BPathogenic135252447252524473TTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)ATP7BPathogenic/Likely pathogenic135252421152524211TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)ATP7BPathogenic135251840952518409CGcriteria provided, single submitter-