Knowledge base for genomic medicine in Japanese
複合カルボキシラーゼ欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)BTDPathogenic31568687015686874AGGGATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001370658.1(BTD):c.566G>A (p.Arg189His)BTDPathogenic/Likely pathogenic31568598915685989GAcriteria provided, multiple submitters, no conflicts-
indelNM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)BTDPathogenic31567698415676990GCGGCTGTCCcriteria provided, multiple submitters, no conflictsHGMD:CX952003,OMIM Allelic Variant:609019.0001
single nucleotide variantNM_001370658.1(BTD):c.1535C>T (p.Thr512Met)BTDPathogenic31568695815686958CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609019.0011,UniProtKB (protein):P43251#VAR_005120
single nucleotide variantNM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)BTDPathogenic31568697515686975CTcriteria provided, multiple submitters, no conflictsHGMD:CM970191,OMIM Allelic Variant:609019.0003,UniProtKB (protein):P43251#VAR_005121
single nucleotide variantNM_001370658.1(BTD):c.695A>G (p.Asp232Gly)BTDPathogenic31568611815686118AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609019.0006
single nucleotide variantNM_001370658.1(BTD):c.1308A>C (p.Gln436His)BTDPathogenic31568673115686731ACcriteria provided, multiple submitters, no conflictsHGMD:CM970190,OMIM Allelic Variant:609019.0007,UniProtKB (protein):P43251#VAR_005119
single nucleotide variantNM_001370658.1(BTD):c.175C>T (p.Arg59Cys)BTDPathogenic31567712115677121CTcriteria provided, single submitterOMIM Allelic Variant:609019.0010
single nucleotide variantNM_000411.8(HLCS):c.710T>C (p.Leu237Pro)HLCSLikely pathogenic213830903538309035AGcriteria provided, single submitterOMIM Allelic Variant:609018.0002,UniProtKB (protein):P50747#VAR_005084
single nucleotide variantNM_000411.8(HLCS):c.1522C>T (p.Arg508Trp)HLCSPathogenic213813747138137471GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609018.0004,UniProtKB (protein):P50747#VAR_013009