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.2300C>T (p.Pro767Leu)ATP7BPathogenic/Likely pathogenic135253250252532502GAcriteria 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.3884C>T (p.Ala1295Val)ATP7BPathogenic/Likely pathogenic135251163152511631GAcriteria 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.970A>T (p.Lys324Ter)ATP7BPathogenic/Likely pathogenic135254838652548386TAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)ATP7BPathogenic/Likely pathogenic135253250552532505GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)ATP7BPathogenic/Likely pathogenic135251144052511443TATAATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.2121+3A>GATP7BPathogenic/Likely pathogenic135253428152534281TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.2122-1G>AATP7BPathogenic/Likely pathogenic135253268152532681CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000053.4(ATP7B):c.3061-12T>AATP7BPathogenic/Likely pathogenic135251843952518439ATcriteria provided, multiple submitters, no conflicts-