Knowledge base for genomic medicine in Japanese
中鎖アシル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_000016.5(ACADM):c.157C>T (p.Arg53Cys)ACADMPathogenic17619836776198367CTcriteria provided, multiple submitters, no conflictsHGMD:CM920003,UniProtKB (protein):P11310#VAR_000317
single nucleotide variantNM_000016.5(ACADM):c.216+2T>GACADMPathogenic17619842876198428TGcriteria provided, single submitter-
single nucleotide variantNM_000016.5(ACADM):c.233T>C (p.Ile78Thr)ACADMPathogenic17619855476198554TCcriteria provided, multiple submitters, no conflictsHGMD:CM012320,UniProtKB (protein):P11310#VAR_015954
single nucleotide variantNM_001286044.1(ACADM):c.-133G>AACADMLikely pathogenic17619857476198574GAcriteria provided, single submitter-
single nucleotide variantNM_000016.5(ACADM):c.616C>T (p.Arg206Cys)ACADMPathogenic/Likely pathogenic17621150776211507CTcriteria provided, multiple submitters, no conflictsHGMD:CM051829
single nucleotide variantNM_000016.5(ACADM):c.617G>A (p.Arg206His)ACADMPathogenic/Likely pathogenic17621150876211508GAcriteria provided, multiple submitters, no conflictsHGMD:CM060002
duplicationNM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter)ACADMPathogenic/Likely pathogenic17622685876226859GGCTAGAATGAGTTAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607008.0002
single nucleotide variantNM_000016.5(ACADM):c.799G>A (p.Gly267Arg)ACADMPathogenic/Likely pathogenic17621519476215194GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607008.0003,UniProtKB (protein):P11310#VAR_000323
single nucleotide variantNM_000016.5(ACADM):c.447G>A (p.Met149Ile)ACADMPathogenic17620053576200535GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607008.0006,UniProtKB (protein):P11310#VAR_000319
deletionNM_000016.5(ACADM):c.1102_1105del (p.Ala369fs)ACADMPathogenic17622696176226964CAGTTCcriteria provided, multiple submitters, no conflictsHGMD:CD920797,OMIM Allelic Variant:607008.0007