Knowledge base for genomic medicine in Japanese
メチルマロン酸血症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_005334.3(HCFC1):c.218C>T (p.Ala73Val)HCFC1PathogenicX153230153153230153GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300019.0004
single nucleotide variantNM_000255.4(MMUT):c.1445-2A>GMMUTPathogenic64941550049415500TCcriteria provided, single submitter-
single nucleotide variantNM_000255.4(MMUT):c.91C>T (p.Arg31Ter)MMUTPathogenic64942708949427089GAcriteria provided, multiple submitters, no conflictsHGMD:CM060346
single nucleotide variantNM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)MMACHCPathogenic14597451945974519CTcriteria provided, multiple submitters, no conflictsHGMD:CM060060
short repeatNM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs)MMACHCPathogenic14597458245974583CTGCcriteria provided, multiple submitters, no conflictsHGMD:CD060130
single nucleotide variantNM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)MMACHCPathogenic14597464645974646GAcriteria provided, multiple submitters, no conflictsHGMD:CM060074
deletionNM_015506.3(MMACHC):c.658_660del (p.Lys220del)MMACHCPathogenic14597469445974696CAGACcriteria provided, multiple submitters, no conflictsHGMD:CD060123,OMIM Allelic Variant:609831.0007
single nucleotide variantNM_052845.4(MMAB):c.568C>T (p.Arg190Cys)MMABPathogenic12109998861109998861GAcriteria provided, single submitterHGMD:CM061117
deletionNM_172250.3(MMAA):c.1034del (p.Phe345fs)MMAAPathogenic4146576361146576361ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.323G>A (p.Arg108His)MMUTPathogenic64942685749426857CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P22033#VAR_022394