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.1063C>T (p.Gln355Ter)ATP7BPathogenic/Likely pathogenic135254829352548293GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)ATP7BPathogenic135254836252548362CAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000053.4(ATP7B):c.111dup (p.Ala38fs)ATP7BPathogenic135254924452549245CCAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)ATP7BPathogenic/Likely pathogenic135250900652509007CCAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000053.4(ATP7B):c.4006del (p.Ile1336fs)ATP7BPathogenic135251142752511427ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)ATP7BLikely pathogenic135251171552511715TGcriteria provided, single submitter-
single nucleotide variantNM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)ATP7BLikely pathogenic135251533752515337CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)ATP7BPathogenic/Likely pathogenic135251829852518298CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)ATP7BLikely pathogenic135251836052518360AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)ATP7BPathogenic/Likely pathogenic135251840252518402GAcriteria provided, multiple submitters, no conflicts-