Knowledge base for genomic medicine in Japanese
マッカードル病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_005609.4(PYGM):c.1366G>A (p.Val456Met)PYGMPathogenic/Likely pathogenic116452102864521028CTcriteria provided, multiple submitters, no conflictsHGMD:CM034445
single nucleotide variantNM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)PYGMPathogenic/Likely pathogenic116452059764520597GCcriteria provided, multiple submitters, no conflictsHGMD:CM092504
deletionNM_005609.4(PYGM):c.2262del (p.Lys754fs)PYGMPathogenic/Likely pathogenic116451474664514746GTGcriteria provided, multiple submitters, no conflictsHGMD:CD982918
single nucleotide variantNM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)PYGMLikely pathogenic116452616564526165GTcriteria provided, single submitter-
short repeatNM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del)PYGMPathogenic/Likely pathogenic116451789564517897TGAATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005609.4(PYGM):c.148C>T (p.Arg50Ter)PYGMPathogenic116452722364527223GAcriteria provided, multiple submitters, no conflictsHGMD:CM930629,OMIM Allelic Variant:608455.0001
single nucleotide variantNM_005609.4(PYGM):c.613G>A (p.Gly205Ser)PYGMPathogenic116452529864525298CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608455.0002,UniProtKB (protein):P11217#VAR_003431
single nucleotide variantNM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)PYGMPathogenic/Likely pathogenic116451953664519536TGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608455.0003,UniProtKB (protein):P11217#VAR_003433
single nucleotide variantNM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)PYGMPathogenic/Likely pathogenic116451796964517969CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608455.0008,UniProtKB (protein):P11217#VAR_014011
single nucleotide variantNM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)PYGMPathogenic/Likely pathogenic116451943864519438GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608455.0009