Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)PKD1Pathogenic/Likely pathogenic1621521612152161GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)PKHD1Pathogenic/Likely pathogenic65189304751893047GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)PKHD1Pathogenic/Likely pathogenic65189027851890278GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)PKHD1Pathogenic/Likely pathogenic65164064251640642GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000297.4(PKD2):c.1668dup (p.Gln557fs)PKD2Pathogenic/Likely pathogenic48897326188973262TTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)PKD2Pathogenic/Likely pathogenic48895964088959640CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)PKD2Pathogenic/Likely pathogenic48895737988957379CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.390+1G>TPKHD1Pathogenic/Likely pathogenic65194469751944697CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)PKHD1Pathogenic/Likely pathogenic65192044751920447GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)PKHD1Pathogenic/Likely pathogenic65161151951611519CGcriteria provided, multiple submitters, no conflicts-