Knowledge base for genomic medicine in Japanese
ポイツ・イェガース症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
duplicationNM_000455.4(STK11):c.169dup (p.Glu57fs)STK11Pathogenic1912070761207077TTGcriteria provided, multiple submitters, no conflictsHGMD:CI983226
single nucleotide variantNM_000455.4(STK11):c.877G>T (p.Glu293Ter)STK11Pathogenic1912219621221962GTcriteria provided, single submitter-
single nucleotide variantNM_000455.4(STK11):c.921-1G>TSTK11Pathogenic1912229831222983GTcriteria provided, single submitter-
deletionNM_000455.4(STK11):c.574del (p.Ile192fs)STK11Pathogenic1912204781220478CACcriteria provided, single submitter-
single nucleotide variantNM_000455.4(STK11):c.734+1G>TSTK11Pathogenic1912207171220717GTcriteria provided, single submitter-
single nucleotide variantNM_000455.4(STK11):c.250A>T (p.Lys84Ter)STK11Pathogenic1912071621207162ATcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:602216.0006
single nucleotide variantNM_000455.4(STK11):c.200T>C (p.Leu67Pro)STK11Pathogenic/Likely pathogenic1912071121207112TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:602216.0008,UniProtKB (protein):Q15831#VAR_006202
single nucleotide variantNM_000455.4(STK11):c.488G>A (p.Gly163Asp)STK11Pathogenic1912203951220395GAcriteria provided, single submitterOMIM Allelic Variant:602216.0011,UniProtKB (protein):Q15831#VAR_033140
deletionNM_000455.4(STK11):c.418del (p.Leu140fs)STK11Pathogenic1912193661219366GCGcriteria provided, single submitterOMIM Allelic Variant:602216.0012
deletionNM_000455.4(STK11):c.650del (p.Pro217fs)STK11Pathogenic1912206291220629TCTcriteria provided, single submitterOMIM Allelic Variant:602216.0016