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.3955C>T (p.Arg1319Ter)ATP7BPathogenic135251147852511478GAcriteria provided, multiple submitters, no conflictsClinGen:CA260148
single nucleotide variantNM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)ATP7BPathogenic/Likely pathogenic135250979552509795CTcriteria provided, multiple submitters, no conflictsClinGen:CA260150
DeletionNM_000053.4(ATP7B):c.845del (p.Leu282fs)ATP7BPathogenic135254851152548511GAGcriteria provided, multiple submitters, no conflictsClinGen:CA260157
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 conflictsClinGen:CA270737,OMIM:606882.0004
single nucleotide variantNM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)ATP7BPathogenic135254844152548441ATcriteria provided, multiple submitters, no conflictsClinGen:CA220313
single nucleotide variantNM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)ATP7BPathogenic135253267452532674CTcriteria provided, multiple submitters, no conflictsClinGen:CA270731,UniProtKB:P35670#VAR_000719
single nucleotide variantNM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)ATP7BPathogenic/Likely pathogenic135253247052532470GCcriteria provided, multiple submitters, no conflictsClinGen:CA270733,UniProtKB:P35670#VAR_000727
single nucleotide variantNM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)ATP7BPathogenic135253246652532466CTcriteria provided, multiple submitters, no conflictsClinGen:CA270734
single nucleotide variantNM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)ATP7BPathogenic135253246552532465CTcriteria provided, multiple submitters, no conflictsClinGen:CA270736