Knowledge base for genomic medicine in Japanese
ゴーシェ病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000157.4(GBA):c.475C>T (p.Arg159Trp)GBAPathogenic1155208421155208421GAcriteria provided, multiple submitters, no conflictsHGMD:CM960694,UniProtKB (protein):P04062#VAR_003264
single nucleotide variantNM_000157.4(GBA):c.115+1G>AGBAPathogenic1155210420155210420CTcriteria provided, multiple submitters, no conflictsHGMD:CS920754,OMIM Allelic Variant:606463.0015
single nucleotide variantNM_000157.4(GBA):c.1171G>C (p.Val391Leu)GBAPathogenic/Likely pathogenic1155206089155206089CGcriteria provided, multiple submitters, no conflictsHGMD:CM970621,UniProtKB (protein):P04062#VAR_010065
single nucleotide variantNM_000157.4(GBA):c.1240G>T (p.Val414Leu)GBAPathogenic/Likely pathogenic1155205620155205620CAcriteria provided, multiple submitters, no conflictsHGMD:CM970623,UniProtKB (protein):P04062#VAR_010068
single nucleotide variantNM_000157.4(GBA):c.1448T>G (p.Leu483Arg)GBAPathogenic/Likely pathogenic1155205043155205043ACcriteria provided, multiple submitters, no conflicts-
deletionNM_000157.4(GBA):c.487del (p.Ala163fs)GBAPathogenic1155208409155208409GCGcriteria provided, single submitter-
single nucleotide variantNM_000157.4(GBA):c.508C>T (p.Arg170Cys)GBAPathogenic1155208388155208388GAcriteria provided, multiple submitters, no conflictsHGMD:CM983510,UniProtKB (protein):P04062#VAR_009035
single nucleotide variantNM_000157.4(GBA):c.625C>T (p.Arg209Cys)GBAPathogenic1155208061155208061GAcriteria provided, multiple submitters, no conflictsHGMD:CM001165,UniProtKB (protein):P04062#VAR_032404
single nucleotide variantNM_000157.4(GBA):c.667T>C (p.Trp223Arg)GBAPathogenic/Likely pathogenic1155208019155208019AGcriteria provided, multiple submitters, no conflictsHGMD:CM001166,UniProtKB (protein):P04062#VAR_003273
single nucleotide variantNM_000157.4(GBA):c.681T>G (p.Asn227Lys)GBAPathogenic1155208005155208005ACcriteria provided, multiple submitters, no conflictsHGMD:CM980832,UniProtKB (protein):P04062#VAR_003275