Knowledge base for genomic medicine in Japanese
アルカプトン尿症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000187.4(HGD):c.342+1G>AHGDLikely pathogenic3120371438120371438CTcriteria provided, single submitter-
duplicationNM_000187.4(HGD):c.1111dup (p.His371fs)HGDPathogenic3120352070120352071TTGcriteria provided, single submitter-
single nucleotide variantNM_000187.4(HGD):c.360T>G (p.Cys120Trp)HGDPathogenic3120369695120369695ACcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q93099#VAR_073089
single nucleotide variantNM_000187.4(HGD):c.688C>T (p.Pro230Ser)HGDPathogenic3120363252120363252GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0001,UniProtKB (protein):Q93099#VAR_005283
single nucleotide variantNM_000187.4(HGD):c.899T>G (p.Val300Gly)HGDPathogenic/Likely pathogenic3120357409120357409ACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0002,UniProtKB (protein):Q93099#VAR_005286
single nucleotide variantNM_000187.4(HGD):c.481G>A (p.Gly161Arg)HGDPathogenic3120365888120365888CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0003,UniProtKB (protein):Q93099#VAR_005278
duplicationNM_000187.4(HGD):c.457dup (p.Asp153fs)HGDPathogenic3120366735120366736TTCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0004,OMIM Allelic Variant:607474.0010
single nucleotide variantNM_000187.4(HGD):c.16-1G>AHGDPathogenic3120394711120394711CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0005
deletionNM_000187.4(HGD):c.175del (p.Ser59fs)HGDPathogenic3120393749120393749CTCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0006
single nucleotide variantNM_000187.4(HGD):c.1102A>G (p.Met368Val)HGDPathogenic3120352080120352080TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607474.0009,UniProtKB (protein):Q93099#VAR_005287