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)
DeletionNC_000012.12:g.(?_102855126)_(102855342_?)delPAHPathogenic12103248904103249120nanacriteria provided, single submitter-
DeletionNM_000277.3(PAH):c.1066-10_1070delPAHLikely pathogenic12103237553103237567GCAGTACTGTAGGCCCGcriteria provided, single submitter-
DeletionNC_000012.12:g.(?_102917061)_(102917140_?)delPAHPathogenic12103310839103310918nanacriteria provided, single submitter-
single nucleotide variantNM_000277.3(PAH):c.223G>A (p.Asp75Asn)PAHLikely pathogenic12103288642103288642CTcriteria provided, single submitter-
single nucleotide variantNM_000277.3(PAH):c.516G>T (p.Gln172His)PAHLikely pathogenic12103249104103249104CAreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.799C>T (p.Gln267Ter)PAHPathogenic12103246636103246636GAreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1123C>G (p.Gln375Glu)PAHLikely pathogenic12103237500103237500GCreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1262T>G (p.Ile421Ser)PAHLikely pathogenic12103234231103234231ACreviewed by expert panel-
single nucleotide variantNM_000277.3(PAH):c.1316-1G>APAHPathogenic12103232997103232997CTreviewed by expert panel-
DeletionNM_000277.3(PAH):c.346_347del (p.Asp116fs)PAHPathogenic12103288518103288519GTCGreviewed by expert panel-