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.473G>A (p.Arg158Gln)PAHPathogenic12103260410103260410CTreviewed by expert panelClinGen:CA251530,UniProtKB:P00439#VAR_000901,OMIM:612349.0010
single nucleotide variantNM_000277.3(PAH):c.727C>T (p.Arg243Ter)PAHPathogenic12103246708103246708GAreviewed by expert panelClinGen:CA220585,OMIM:612349.0011
single nucleotide variantNM_000277.3(PAH):c.842C>T (p.Pro281Leu)PAHLikely pathogenic12103246593103246593GAreviewed by expert panelClinGen:CA220589,UniProtKB:P00439#VAR_000981,OMIM:612349.0012
single nucleotide variantNM_000277.3(PAH):c.611A>G (p.Tyr204Cys)PAHPathogenic12103249009103249009TCreviewed by expert panelClinGen:CA229653,UniProtKB:P00439#VAR_000924,OMIM:612349.0013
single nucleotide variantNM_000277.3(PAH):c.728G>A (p.Arg243Gln)PAHPathogenic/Likely pathogenic12103246707103246707CTcriteria provided, multiple submitters, no conflictsClinGen:CA251531,UniProtKB:P00439#VAR_000947,OMIM:612349.0014
single nucleotide variantNM_000277.3(PAH):c.1238G>C (p.Arg413Pro)PAHPathogenic12103234255103234255CGreviewed by expert panelClinGen:CA229414,UniProtKB:P00439#VAR_001036,OMIM:612349.0016
single nucleotide variantNM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)PAHPathogenic12103234252103234252TCreviewed by expert panelClinGen:CA114362,UniProtKB:P00439#VAR_001038,OMIM:612349.0017
single nucleotide variantNM_000277.3(PAH):c.442-1G>APAHPathogenic12103260442103260442CTreviewed by expert panelClinGen:CA229550,OMIM:612349.0018
single nucleotide variantNM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)PAHPathogenic12103237555103237555GCreviewed by expert panelClinGen:CA229327,OMIM:612349.0019
single nucleotide variantNM_000277.3(PAH):c.814G>T (p.Gly272Ter)PAHPathogenic12103246621103246621CAreviewed by expert panelClinGen:CA251532,OMIM:612349.0020