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.251A>G (p.Glu84Gly)GCH1Likely pathogenic145536913155369131TCcriteria provided, single submitter-
DuplicationNM_000161.3(GCH1):c.248dup (p.Glu84fs)GCH1Pathogenic/Likely pathogenic145536913355369134GGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000161.3(GCH1):c.212T>C (p.Leu71Pro)GCH1Likely pathogenic145536917055369170AGcriteria provided, single submitter-
DuplicationNM_000161.3(GCH1):c.127_130dup (p.Ala44fs)GCH1Pathogenic145536925155369252GGCCTCcriteria provided, single submitter-
DeletionNM_000161.3(GCH1):c.76del (p.Asp26fs)GCH1Pathogenic145536930655369306TCTcriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.1A>G (p.Met1Val)GCH1Pathogenic145536938155369381TCcriteria provided, multiple submitters, no conflicts-
DeletionNC_000014.9:g.(?_54865317)_(54865446_?)delGCH1Pathogenic145533203555332164nanacriteria provided, single submitter-
IndelNM_000161.3(GCH1):c.509+1_509+3delinsTGTGAGGCH1Pathogenic145532639655326398TACCTCACAcriteria provided, single submitter-