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
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)ACADMLikely pathogenic17622698576226985TCcriteria provided, single submitterClinGen:CA252826,UniProtKB:P11310#VAR_000327,OMIM:607008.0004
single nucleotide variantNM_000016.6(ACADM):c.577A>G (p.Thr193Ala)ACADMLikely pathogenic17620577376205773AGcriteria provided, single submitterClinGen:CA252832,UniProtKB:P11310#VAR_000320,OMIM:607008.0010
single nucleotide variantNM_000016.6(ACADM):c.253G>A (p.Gly85Ser)ACADMLikely pathogenic17619857476198574GAcriteria provided, single submitterClinGen:CA220176
single nucleotide variantNM_000016.6(ACADM):c.850-2A>GACADMLikely pathogenic17621613476216134AGcriteria provided, single submitterClinGen:CA273906
single nucleotide variantNM_000016.6(ACADM):c.118+1G>TACADMLikely pathogenic17619417476194174GTcriteria provided, multiple submitters, no conflictsClinGen:CA16040772
single nucleotide variantNM_000016.6(ACADM):c.216+1G>TACADMLikely pathogenic17619842776198427GTcriteria provided, single submitterClinGen:CA16040774
DeletionNM_000016.6(ACADM):c.224del (p.Val75fs)ACADMLikely pathogenic17619854576198545GTGcriteria provided, multiple submitters, no conflictsClinGen:CA16040775
single nucleotide variantNM_000016.6(ACADM):c.387+1G>TACADMLikely pathogenic17619931476199314GTcriteria provided, single submitterClinGen:CA16040778
single nucleotide variantNM_000016.6(ACADM):c.949C>T (p.Gln317Ter)ACADMLikely pathogenic17622681076226810CTcriteria provided, single submitterClinGen:CA16040781
DeletionNM_000016.6(ACADM):c.1045del (p.Arg349fs)ACADMLikely pathogenic17622690676226906TCTcriteria provided, single submitterClinGen:CA16040784