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.453+1G>CGCH1Pathogenic145533204455332044CGcriteria provided, single submitterOMIM:600225.0009
single nucleotide variantNM_000161.3(GCH1):c.323G>A (p.Gly108Asp)GCH1Pathogenic145536905955369059CTcriteria provided, multiple submitters, no conflictsClinGen:CA120279,UniProtKB:P30793#VAR_016894,OMIM:600225.0012
single nucleotide variantNM_000161.3(GCH1):c.142C>T (p.Gln48Ter)GCH1Pathogenic145536924055369240GAcriteria provided, single submitterClinGen:CA254727,OMIM:600225.0018
single nucleotide variantNM_000161.3(GCH1):c.551G>A (p.Arg184His)GCH1Pathogenic145531256155312561CTcriteria provided, multiple submitters, no conflictsClinGen:CA120283,UniProtKB:P30793#VAR_002643,OMIM:600225.0020
DeletionNM_000161.3(GCH1):c.631_632del (p.Met211fs)GCH1Pathogenic145531085655310857CATCcriteria provided, multiple submitters, no conflictsClinGen:CA10588575
DeletionNM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer)GCH1Likely pathogenic145531250255312502ACAcriteria provided, single submitterClinGen:CA10588576
single nucleotide variantNM_000161.3(GCH1):c.159G>A (p.Trp53Ter)GCH1Pathogenic145536922355369223CTcriteria provided, single submitterClinGen:CA10603246
single nucleotide variantNM_000161.3(GCH1):c.607G>A (p.Gly203Arg)GCH1Pathogenic145531250555312505CTcriteria provided, multiple submitters, no conflictsClinGen:CA16606864
single nucleotide variantNM_000161.3(GCH1):c.752G>C (p.Ter251Ser)GCH1Pathogenic145531073655310736CGcriteria provided, single submitterClinGen:CA389786574
single nucleotide variantNM_000161.3(GCH1):c.510-1G>AGCH1Pathogenic145531384955313849CTcriteria provided, multiple submitters, no conflictsClinGen:CA389787520