Knowledge base for genomic medicine in Japanese
フェニルケトン尿症
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000277.3(PAH):c.1042C>G (p.Leu348Val)PAHPathogenic12103238137103238137GCcriteria provided, multiple submitters, no conflictsHGMD:CM920561,UniProtKB (protein):P00439#VAR_001012
single nucleotide variantNM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)PAHPathogenic12103237555103237555GTreviewed by expert panelHGMD:CM941138
single nucleotide variantNM_000277.3(PAH):c.1200-1G>APAHPathogenic/Likely pathogenic12103234294103234294CTcriteria provided, multiple submitters, no conflictsHGMD:CS962555
single nucleotide variantNM_000277.3(PAH):c.1208C>T (p.Ala403Val)PAHPathogenic12103234285103234285GAreviewed by expert panelHGMD:CM930567,UniProtKB (protein):P00439#VAR_001033
single nucleotide variantNM_000277.3(PAH):c.165T>G (p.Phe55Leu)PAHPathogenic/Likely pathogenic12103306572103306572ACcriteria provided, multiple submitters, no conflictsHGMD:CM971122,UniProtKB (protein):P00439#VAR_000879
single nucleotide variantNM_000277.3(PAH):c.204A>T (p.Arg68Ser)PAHPathogenic/Likely pathogenic12103288661103288661TAcriteria provided, multiple submitters, no conflictsHGMD:CM920542,UniProtKB (protein):P00439#VAR_000885
single nucleotide variantNM_000277.3(PAH):c.355C>T (p.Pro119Ser)PAHLikely pathogenic12103271326103271326GAreviewed by expert panelHGMD:CM043044
single nucleotide variantNM_000277.3(PAH):c.441+5G>TPAHPathogenic12103271235103271235CAreviewed by expert panelHGMD:CS971841
single nucleotide variantNM_000277.3(PAH):c.500A>T (p.Asn167Ile)PAHLikely pathogenic12103260383103260383TAreviewed by expert panelHGMD:CM981434,UniProtKB (protein):P00439#VAR_000906
single nucleotide variantNM_000277.3(PAH):c.508C>G (p.His170Asp)PAHPathogenic12103260375103260375GCreviewed by expert panelHGMD:CM011946,UniProtKB (protein):P00439#VAR_011569