Knowledge base for genomic medicine in Japanese
悪性高熱症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000540.2(RYR1):c.10348-6C>GRYR1Pathogenic/Likely pathogenic193901385139013851CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:180901.0036
single nucleotide variantNM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr)RYR1Pathogenic/Likely pathogenic193907659239076592GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21817#VAR_045780
single nucleotide variantNM_000540.2(RYR1):c.178G>A (p.Asp60Asn)RYR1Pathogenic/Likely pathogenic193893300138933001GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys)RYR1Pathogenic193906281239062812GAcriteria provided, single submitter-
single nucleotide variantNM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp)RYR1Pathogenic/Likely pathogenic193906282539062825GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21817#VAR_045742
single nucleotide variantNM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser)RYR1Likely pathogenic193906282439062824GAcriteria provided, single submitter-
single nucleotide variantNM_000540.2(RYR1):c.14659C>T (p.His4887Tyr)RYR1Likely pathogenic193907559539075595CTcriteria provided, single submitter-
single nucleotide variantNM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr)RYR1Pathogenic193899128038991280TCcriteria provided, single submitter-
single nucleotide variantNM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys)RYR1Pathogenic/Likely pathogenic193899153838991538CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21817#VAR_075399
single nucleotide variantNM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys)RYR1Pathogenic193907107939071079CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21817#VAR_045762