Knowledge base for genomic medicine in Japanese
フェニルケトン尿症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000277.3(PAH):c.224A>G (p.Asp75Gly)PAHLikely pathogenic12103288641103288641TCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.136G>C (p.Gly46Arg)PAHLikely pathogenic12103306601103306601CGreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.461A>T (p.Tyr154Phe)PAHLikely pathogenic12103260422103260422TAreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1304A>T (p.Asp435Val)PAHLikely pathogenic12103234189103234189TAreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1109A>G (p.Glu370Gly)PAHLikely pathogenic12103237514103237514TCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1102G>A (p.Glu368Lys)PAHLikely pathogenic12103237521103237521CTreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.590T>A (p.Leu197Ter)PAHPathogenic12103249030103249030ATreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.32T>A (p.Leu11Ter)PAHPathogenic12103310877103310877ATreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1200-2A>CPAHPathogenic12103234295103234295TGreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.875C>T (p.Pro292Leu)PAHLikely pathogenic12103245502103245502GAreviewed by expert panel-