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.1315+1G>APAHPathogenic12103234177103234177CTreviewed by expert panelClinGen:CA251522,OMIM:612349.0001
single nucleotide variantNM_000277.3(PAH):c.1222C>T (p.Arg408Trp)PAHPathogenic12103234271103234271GAreviewed by expert panelUniProtKB:P00439#VAR_001035,OMIM:612349.0002,ClinGen:CA251523
single nucleotide variantNM_000277.3(PAH):c.932T>C (p.Leu311Pro)PAHPathogenic12103240710103240710AGreviewed by expert panelClinGen:CA251524,UniProtKB:P00439#VAR_000996,OMIM:612349.0003
single nucleotide variantNM_000277.3(PAH):c.977G>A (p.Trp326Ter)PAHPathogenic12103238202103238202CTreviewed by expert panelClinGen:CA229887,OMIM:612349.0015
single nucleotide variantNM_000277.3(PAH):c.838G>A (p.Glu280Lys)PAHPathogenic12103246597103246597CTcriteria provided, multiple submitters, no conflictsClinGen:CA251525,UniProtKB:P00439#VAR_000980,OMIM:612349.0004
single nucleotide variantNM_000277.3(PAH):c.331C>T (p.Arg111Ter)PAHPathogenic12103288534103288534GAreviewed by expert panelClinGen:CA251526,OMIM:612349.0005
single nucleotide variantNM_000277.3(PAH):c.782G>A (p.Arg261Gln)PAHPathogenic12103246653103246653CTreviewed by expert panelClinGen:CA251528,UniProtKB:P00439#VAR_000965,OMIM:612349.0006
single nucleotide variantNM_000277.3(PAH):c.261C>A (p.Ser87Arg)PAHPathogenic/Likely pathogenic12103288604103288604GTcriteria provided, multiple submitters, no conflictsClinGen:CA114359,UniProtKB:P00439#VAR_000888,OMIM:612349.0057
single nucleotide variantNM_000277.3(PAH):c.754C>T (p.Arg252Trp)PAHPathogenic12103246681103246681GAreviewed by expert panelClinGen:CA251529,UniProtKB:P00439#VAR_000958,OMIM:612349.0007,ClinVar:217885
single nucleotide variantNM_000277.3(PAH):c.1A>G (p.Met1Val)PAHPathogenic12103310908103310908TCreviewed by expert panelClinGen:CA114360,OMIM:612349.0009