Knowledge base for genomic medicine in Japanese
先天性QT延長症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_181798.1(KCNQ1):c.627del (p.Ile210fs)KCNQ1Pathogenic1126047502604750GCGcriteria provided, single submitter-
single nucleotide variantNM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe)KCNQ1Likely pathogenic1126047562604756CTcriteria provided, single submitter-
single nucleotide variantNM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser)KCNQ1Pathogenic/Likely pathogenic1126047592604759TCcriteria provided, multiple submitters, no conflicts-
short repeatNM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del)KCNQ1Pathogenic1126047572604759CCTTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe)KCNQ1Pathogenic/Likely pathogenic1126047672604767CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P51787#VAR_001540
single nucleotide variantNM_181798.1(KCNQ1):c.650C>T (p.Ala217Val)KCNQ1Pathogenic1126047742604774CTcriteria provided, single submitterUniProtKB (protein):P51787#VAR_001541
single nucleotide variantNM_181798.1(KCNQ1):c.651+1G>AKCNQ1Likely pathogenic1126047762604776GAcriteria provided, single submitter-
single nucleotide variantNM_181798.1(KCNQ1):c.651G>C (p.Ala217=)KCNQ1Pathogenic1126047752604775GCcriteria provided, single submitter-
single nucleotide variantNM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg)KCNQ1Pathogenic1126064422606442GCcriteria provided, single submitterUniProtKB (protein):P51787#VAR_008126
single nucleotide variantNM_181798.1(KCNQ1):c.665C>G (p.Ser222Trp)KCNQ1Pathogenic1126064552606455CGcriteria provided, single submitterUniProtKB (protein):P51787#VAR_009928