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_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)CACNA1SPathogenic/Likely pathogenic1201061139201061139GAcriteria provided, multiple submitters, no conflictsClinGen:CA35996896
DeletionNM_000069.3(CACNA1S):c.564del (p.Ile189fs)CACNA1SPathogenic1201060898201060898TGTcriteria provided, single submitterClinGen:CA658795585
DeletionNM_000069.3(CACNA1S):c.732del (p.Cys245fs)CACNA1SPathogenic1201058554201058554AGAcriteria provided, single submitter-
single nucleotide variantNM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)CACNA1SPathogenic1201058389201058389GCcriteria provided, single submitter-
single nucleotide variantNM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)CACNA1SPathogenic/Likely pathogenic1201058386201058386CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter)CACNA1SLikely pathogenic1201052414201052414CTcriteria provided, single submitter-
single nucleotide variantNM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)CACNA1SPathogenic1201047123201047123GTcriteria provided, single submitterClinGen:CA344121959
single nucleotide variantNM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)CACNA1SLikely pathogenic1201047043201047043CAcriteria provided, multiple submitters, no conflictsClinGen:CA35978916
single nucleotide variantNM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)CACNA1SPathogenic1201047043201047043CTcriteria provided, multiple submitters, no conflictsClinGen:CA004021,UniProtKB:Q13698#VAR_001499,OMIM:114208.0003
DeletionNM_000069.3(CACNA1S):c.1796del (p.Asn599fs)CACNA1SPathogenic1201046079201046079GTGcriteria provided, single submitter-