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.542A>G (p.Glu181Gly)GCDHPathogenic191300684213006842AGcriteria provided, single submitterHGMD:CM081270
single nucleotide variantNM_000159.4(GCDH):c.636-1G>AGCDHPathogenic/Likely pathogenic191300701813007018GAcriteria provided, multiple submitters, no conflictsHGMD:CS000458
single nucleotide variantNM_000159.4(GCDH):c.883T>C (p.Tyr295His)GCDHPathogenic191300775413007754TCcriteria provided, single submitterOMIM Allelic Variant:608801.0001,UniProtKB (protein):Q92947#VAR_000389
single nucleotide variantNM_000159.4(GCDH):c.1262C>T (p.Ala421Val)GCDHPathogenic191301030013010300CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608801.0002,UniProtKB (protein):Q92947#VAR_000420
single nucleotide variantNM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)GCDHPathogenic/Likely pathogenic191300863813008638CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608801.0004,UniProtKB (protein):Q92947#VAR_000412
single nucleotide variantNM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)GCDHPathogenic/Likely pathogenic191300852713008527GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608801.0005,UniProtKB (protein):Q92947#VAR_000402
single nucleotide variantNM_000159.4(GCDH):c.1198G>A (p.Val400Met)GCDHPathogenic191300863213008632GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608801.0008,UniProtKB (protein):Q92947#VAR_000411
single nucleotide variantNM_000159.4(GCDH):c.680G>C (p.Arg227Pro)GCDHPathogenic191300706313007063GCcriteria provided, multiple submitters, no conflictsHGMD:CM960711,OMIM Allelic Variant:608801.0009,UniProtKB (protein):Q92947#VAR_000380
single nucleotide variantNM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)GCDHPathogenic191300867413008674GAcriteria provided, multiple submitters, no conflictsHGMD:CM960720,UniProtKB (protein):Q92947#VAR_000417
single nucleotide variantNM_000159.4(GCDH):c.262C>T (p.Arg88Cys)GCDHPathogenic191300277913002779CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q92947#VAR_000366