Knowledge base for genomic medicine in Japanese
極長鎖アシルCoA脱水素酵素欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)ACADVLLikely pathogenic1771264807126480TCcriteria provided, single submitter-
duplicationNM_000018.4(ACADVL):c.1389dup (p.Thr464fs)ACADVLPathogenic1771273397127340AAGcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)ACADVLPathogenic/Likely pathogenic1771273607127360GAcriteria provided, multiple submitters, no conflictsHGMD:CM990103,UniProtKB (protein):P49748#VAR_000361
single nucleotide variantNM_000018.4(ACADVL):c.520G>A (p.Val174Met)ACADVLPathogenic/Likely pathogenic1771248997124899GAcriteria provided, multiple submitters, no conflictsHGMD:CM990084,UniProtKB (protein):P49748#VAR_000334
single nucleotide variantNM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)ACADVLPathogenic/Likely pathogenic1771253127125312GAcriteria provided, multiple submitters, no conflictsHGMD:CM101566
single nucleotide variantNM_000018.4(ACADVL):c.753-2A>CACADVLPathogenic1771254947125494ACcriteria provided, multiple submitters, no conflictsHGMD:CS991281
single nucleotide variantNM_000018.4(ACADVL):c.1182+1G>AACADVLPathogenic/Likely pathogenic1771265577126557GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609575.0002
single nucleotide variantNM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)ACADVLPathogenic/Likely pathogenic1771282857128285CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609575.0003,UniProtKB (protein):P49748#VAR_000365
deletionNM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs)ACADVLPathogenic1771242427124242AGAcriteria provided, multiple submitters, no conflictsHGMD:CD961740,OMIM Allelic Variant:609575.0004,OMIM Allelic Variant:609575.0005
short repeatNM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del)ACADVLPathogenic/Likely pathogenic1771242847124286TGGATcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609575.0006