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.1216A>G (p.Ile406Val)PAHLikely pathogenic12103234277103234277TCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.859C>G (p.Leu287Val)PAHLikely pathogenic12103245518103245518GCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.813T>G (p.His271Gln)PAHLikely pathogenic12103246622103246622ACreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.803A>G (p.Tyr268Cys)PAHLikely pathogenic12103246632103246632TCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.788T>C (p.Phe263Ser)PAHPathogenic12103246647103246647AGreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.773T>C (p.Leu258Pro)PAHLikely pathogenic12103246662103246662AGreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.712A>G (p.Thr238Ala)PAHLikely pathogenic12103246723103246723TCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.697T>A (p.Phe233Ile)PAHPathogenic12103248923103248923ATreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.694C>G (p.Gln232Glu)PAHLikely pathogenic12103248926103248926GCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.224A>T (p.Asp75Val)PAHLikely pathogenic12103288641103288641TAreviewed by expert panel-