Knowledge base for genomic medicine in Japanese
遺伝性乳がん (ATM/CHEK2)
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNC_000022.10:g.(?_29095816)_(29095935_?)dupCHEK2Likely pathogenic222909581629095935nanacriteria provided, single submitter-
DeletionNC_000022.11:g.(?_28711899)_(28712027_?)delCHEK2Pathogenic222910788729108015nanacriteria provided, single submitter-
DeletionNM_007194.4(CHEK2):c.1461+2delCHEK2Likely pathogenic222909001829090018CACcriteria provided, single submitter-
single nucleotide variantNM_007194.4(CHEK2):c.1375+1G>ACHEK2Likely pathogenic222909111429091114CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_007194.4(CHEK2):c.1260-24_1263delCHEK2Likely pathogenic222909122729091254TAAGGCTTAATATTGGTAGAGAGAGAAAGTcriteria provided, single submitter-