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_000455.5(STK11):c.755_758dup (p.Pro254fs)STK11Pathogenic1912212311221232CCTGTAcriteria provided, single submitter-
DuplicationNM_000455.5(STK11):c.762dup (p.Phe255fs)STK11Pathogenic1912212351221236AACcriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.964del (p.Ile322fs)STK11Pathogenic1912230271223027CACcriteria provided, single submitter-
DuplicationNM_000455.5(STK11):c.965dup (p.Pro324fs)STK11Pathogenic1912230271223028AATcriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.291-15_292delSTK11Likely pathogenic1912184001218416TGTCCTCTCTGTCCCAGGTcriteria provided, single submitter-
DeletionNM_000455.5(STK11):c.920+1delSTK11Pathogenic1912220051222005AGAcriteria provided, single submitter-
DeletionNC_000019.10:g.(?_1206904)_(1219423_?)delSTK11Pathogenic1912069031219422nanacriteria provided, single submitter-
DeletionNC_000019.10:g.(?_1219314)_(1222016_?)delSTK11Pathogenic1912193131222015nanacriteria provided, single submitter-