Knowledge base for genomic medicine in Japanese
グルタル酸血症1型
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)GCDHPathogenic/Likely pathogenic191301033613010336CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.914C>T (p.Ser305Leu)GCDHPathogenic/Likely pathogenic191300778513007785CTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000159.4(GCDH):c.1173dup (p.Asn392fs)GCDHPathogenic/Likely pathogenic191300860013008601TTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.337T>C (p.Tyr113His)GCDHPathogenic/Likely pathogenic191300429913004299TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.301G>A (p.Gly101Arg)GCDHPathogenic/Likely pathogenic191300295913002959GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.1244-2A>GGCDHPathogenic/Likely pathogenic191301028013010280AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.334G>T (p.Gly112Ter)GCDHPathogenic/Likely pathogenic191300299213002992GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.192G>T (p.Glu64Asp)GCDHPathogenic/Likely pathogenic191300270913002709GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.770G>A (p.Arg257Gln)GCDHPathogenic/Likely pathogenic191300715313007153GAcriteria provided, multiple submitters, no conflictsClinGen:CA9234482
single nucleotide variantNM_000159.4(GCDH):c.262C>A (p.Arg88Ser)GCDHPathogenic/Likely pathogenic191300277913002779CAcriteria provided, multiple submitters, no conflictsClinGen:CA305500199