Knowledge base for genomic medicine in Japanese
ドーパ反応性ジストニア(瀬川病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000161.3(GCH1):c.323G>A (p.Gly108Asp)GCH1Pathogenic145536905955369059CTcriteria provided, single submitterOMIM Allelic Variant:600225.0012,UniProtKB (protein):P30793#VAR_016894
single nucleotide variantNM_000161.3(GCH1):c.551G>A (p.Arg184His)GCH1Pathogenic145531256155312561CTcriteria provided, single submitterOMIM Allelic Variant:600225.0020,UniProtKB (protein):P30793#VAR_002643
deletionNM_000161.3(GCH1):c.631_632del (p.Met211fs)GCH1Pathogenic145531085655310857CATCcriteria provided, multiple submitters, no conflicts-
deletionNM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer)GCH1Likely pathogenic145531250255312502ACAcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.159G>A (p.Trp53Ter)GCH1Pathogenic145536922355369223CTcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.607G>A (p.Gly203Arg)GCH1Pathogenic145531250555312505CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000161.3(GCH1):c.301G>A (p.Ala101Thr)GCH1Likely pathogenic145536908155369081CTcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.395T>C (p.Val132Ala)GCH1Likely pathogenic145533210355332103AGcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.752G>C (p.Ter251Ser)GCH1Pathogenic145531073655310736CGcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.510-1G>AGCH1Pathogenic145531384955313849CTcriteria provided, single submitter-