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.287-1G>CACADMPathogenic17619921276199212GCcriteria provided, single submitterClinGen:CA275290
single nucleotide variantNM_000016.6(ACADM):c.443G>A (p.Arg148Lys)ACADMPathogenic/Likely pathogenic17620053176200531GAcriteria provided, multiple submitters, no conflictsClinGen:CA303029
DeletionNM_000016.6(ACADM):c.426del (p.Lys143fs)ACADMPathogenic17620051476200514AGAcriteria provided, multiple submitters, no conflictsClinGen:CA312202
single nucleotide variantNM_000016.6(ACADM):c.698T>C (p.Ile233Thr)ACADMPathogenic/Likely pathogenic17621158976211589TCcriteria provided, multiple submitters, no conflictsClinGen:CA312175
single nucleotide variantNM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)ACADMPathogenic/Likely pathogenic17622691376226913CTcriteria provided, multiple submitters, no conflictsClinGen:CA312184
DuplicationNM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)ACADMPathogenic/Likely pathogenic17619415776194158AATTAGGATcriteria provided, multiple submitters, no conflictsClinGen:CA10576218
single nucleotide variantNM_000016.6(ACADM):c.250C>T (p.Leu84Phe)ACADMPathogenic/Likely pathogenic17619857176198571CTcriteria provided, multiple submitters, no conflictsClinGen:CA913006
DeletionNM_000016.6(ACADM):c.322_325del (p.Ile108fs)ACADMPathogenic17619924576199248TTTAATcriteria provided, multiple submitters, no conflictsClinGen:CA913064
single nucleotide variantNM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)ACADMPathogenic/Likely pathogenic17619927376199273GAcriteria provided, multiple submitters, no conflictsClinGen:CA10576226,UniProtKB:P11310#VAR_015955
single nucleotide variantNM_000016.6(ACADM):c.464T>C (p.Met155Thr)ACADMPathogenic/Likely pathogenic17620055276200552TCcriteria provided, multiple submitters, no conflictsClinGen:CA10576228