Knowledge base for genomic medicine in Japanese
ハーラー症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)IDUAPathogenic4996129996129GAcriteria provided, single submitterHGMD:CM950681,UniProtKB (protein):P35475#VAR_003362
single nucleotide variantNM_000203.5(IDUA):c.1402+1G>CIDUAPathogenic4996733996733GCcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1650+5G>AIDUAPathogenic/Likely pathogenic4997263997263GAcriteria provided, multiple submitters, no conflictsHGMD:CS022107
deletionNM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)IDUAPathogenic4997871997871TCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.299+1G>TIDUAPathogenic/Likely pathogenic4981738981738GTcriteria provided, multiple submitters, no conflicts-
deletionNM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)IDUAPathogenic4980907980918GCGCTCCTGGCCTGcriteria provided, multiple submitters, no conflictsHGMD:CD941709
single nucleotide variantNM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)IDUAPathogenic4995263995263CGcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)IDUAPathogenic4996535996535GAcriteria provided, multiple submitters, no conflictsHGMD:CM920372,OMIM Allelic Variant:252800.0001
single nucleotide variantNM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)IDUAPathogenic4997206997206CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:252800.0003,UniProtKB (protein):P35475#VAR_003378
single nucleotide variantNM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)IDUAPathogenic4981630981630CAcriteria provided, single submitterOMIM Allelic Variant:252800.0006