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.1182T>G (p.Ile394Met)GCDHPathogenic191300861613008616TGcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.679C>T (p.Arg227Trp)GCDHPathogenic191300706213007062CTcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.553G>A (p.Gly185Arg)GCDHPathogenic191300685313006853GAcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.386A>C (p.Glu129Ala)GCDHPathogenic191300434813004348ACcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)GCDHLikely pathogenic191300855213008552AGcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.914C>T (p.Ser305Leu)GCDHPathogenic/Likely pathogenic191300778513007785CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.751C>T (p.Gln251Ter)GCDHPathogenic191300713413007134CTcriteria provided, single submitter-
DuplicationNM_000159.4(GCDH):c.1173dup (p.Asn392fs)GCDHPathogenic/Likely pathogenic191300860013008601TTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)GCDHPathogenic191300821413008214CTcriteria provided, single submitter-