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_000016.6(ACADM):c.217-1G>AACADMPathogenic17619853776198537GAcriteria provided, single submitter-
single nucleotide variantNM_000016.6(ACADM):c.67C>T (p.Gln23Ter)ACADMPathogenic17619412276194122CTcriteria provided, single submitter-
single nucleotide variantNM_000016.6(ACADM):c.454G>T (p.Glu152Ter)ACADMLikely pathogenic17620054276200542GTcriteria provided, single submitter-
DeletionNM_000016.6(ACADM):c.927del (p.Phe309fs)ACADMPathogenic17621621376216213TCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000016.6(ACADM):c.950A>T (p.Gln317Leu)ACADMLikely pathogenic17622681176226811ATcriteria provided, single submitter-
IndelNM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)ACADMPathogenic17621518976215198GTGACGGAGCTTTAAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000016.6(ACADM):c.165del (p.Phe55fs)ACADMPathogenic/Likely pathogenic17619837376198373ATAcriteria provided, multiple submitters, no conflicts-
DeletionNC_000001.11:g.(?_75761102)_(75762783_?)delACADMPathogenic17622678776228468nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_75541435)_(76074884_?)delACADMPathogenic17600712076540569nanacriteria provided, single submitter-
IndelNM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)ACADMLikely pathogenic17621522176215223GCTCCcriteria provided, single submitter-