Knowledge base for genomic medicine in Japanese
糖原病II型 (ポンペ病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000152.5(GAA):c.1465G>A (p.Asp489Asn)GAAPathogenic/Likely pathogenic177808455378084553GAcriteria provided, multiple submitters, no conflictsHGMD:CM064000,UniProtKB (protein):P10253#VAR_029037
single nucleotide variantNM_000152.5(GAA):c.2012T>G (p.Met671Arg)GAAPathogenic177808679878086798TGcriteria provided, single submitterHGMD:CM068150
duplicationNM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)GAAPathogenic177808703978087040GGCGAGCcriteria provided, single submitterHGMD:CI064692
single nucleotide variantNM_000152.5(GAA):c.2105G>T (p.Arg702Leu)GAAPathogenic/Likely pathogenic177808708178087081GTcriteria provided, multiple submitters, no conflictsHGMD:CM120531,UniProtKB (protein):P10253#VAR_068626
single nucleotide variantNM_000152.5(GAA):c.2512C>T (p.Gln838Ter)GAAPathogenic177809202278092022CTreviewed by expert panel-
deletionNM_000152.5(GAA):c.2544del (p.Lys849fs)GAAPathogenic177809205378092053ACAcriteria provided, single submitterHGMD:CD112141
single nucleotide variantNM_000152.5(GAA):c.307T>G (p.Cys103Gly)GAAPathogenic177807869278078692TGcriteria provided, multiple submitters, no conflictsHGMD:CM040049,UniProtKB (protein):P10253#VAR_018078
single nucleotide variantNM_000152.5(GAA):c.1561G>A (p.Glu521Lys)GAALikely pathogenic177808474978084749GAcriteria provided, single submitterOMIM Allelic Variant:606800.0003,UniProtKB (protein):P10253#VAR_004295
single nucleotide variantNM_000152.5(GAA):c.1927G>A (p.Gly643Arg)GAAPathogenic177808671378086713GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606800.0004,UniProtKB (protein):P10253#VAR_004301
single nucleotide variantNM_000152.5(GAA):c.2173C>T (p.Arg725Trp)GAAPathogenic177808714978087149CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606800.0005,UniProtKB (protein):P10253#VAR_004310