Knowledge base for genomic medicine in Japanese
家族性大腸腺腫症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000038.6(APC):c.190G>T (p.Gly64Ter)APCPathogenic5112102077112102077GTcriteria provided, single submitter-
deletionNM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)APCPathogenic5112174471112174475TAAAACTcriteria provided, multiple submitters, no conflictsHGMD:CD920810
deletionNM_000038.6(APC):c.3202_3205del (p.Ser1068fs)APCPathogenic5112174490112174493ACAATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000038.6(APC):c.2731G>T (p.Glu911Ter)APCPathogenic5112174022112174022GTcriteria provided, single submitter-
single nucleotide variantNM_000038.6(APC):c.1659G>A (p.Trp553Ter)APCPathogenic5112164585112164585GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000038.6(APC):c.2365C>T (p.Gln789Ter)APCPathogenic5112173656112173656CTcriteria provided, multiple submitters, no conflictsHGMD:CM106356
deletionNM_000038.6(APC):c.2547_2550del (p.Asp849fs)APCPathogenic5112173835112173838AAGATAcriteria provided, multiple submitters, no conflictsHGMD:CD022518
deletionNM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer)APCPathogenic5112174096112174096ACAcriteria provided, single submitterHGMD:CD041148
single nucleotide variantNM_000038.6(APC):c.3982C>T (p.Gln1328Ter)APCPathogenic5112175273112175273CTcriteria provided, multiple submitters, no conflictsHGMD:CM930028
duplicationNM_000038.6(APC):c.4473dup (p.Ala1492fs)APCPathogenic5112175760112175761AATcriteria provided, multiple submitters, no conflicts-