Knowledge base for genomic medicine in Japanese
DICER1症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)DICER1Likely pathogenic149556250995562509ACreviewed by expert panelClinGen:CA212568,UniProtKB:Q9UPY3#VAR_063150,OMIM:606241.0001
single nucleotide variantNM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)DICER1Pathogenic149558396195583961CAcriteria provided, multiple submitters, no conflictsClinGen:CA212571,OMIM:606241.0002
single nucleotide variantNM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)DICER1Pathogenic149557253595572535GAcriteria provided, multiple submitters, no conflictsClinGen:CA212577,OMIM:606241.0003
single nucleotide variantNM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)DICER1Pathogenic149558291295582912GAcriteria provided, multiple submitters, no conflictsClinGen:CA212583,OMIM:606241.0005
single nucleotide variantNM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)DICER1Pathogenic149555759095557590GTcriteria provided, single submitterOMIM:606241.0006
single nucleotide variantNM_177438.3(DICER1):c.2805-1G>TDICER1Pathogenic149557256195572561CAcriteria provided, single submitterOMIM:606241.0010
single nucleotide variantNM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter)DICER1Likely pathogenic149557441095574410GCcriteria provided, single submitterOMIM:606241.0008
IndelNM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs)DICER1Pathogenic149557011795570122TGTAGTAcriteria provided, single submitterClinGen:CA10575607,OMIM:606241.0012
single nucleotide variantNM_177438.3(DICER1):c.559C>T (p.Arg187Ter)DICER1Pathogenic149559640995596409GAcriteria provided, multiple submitters, no conflictsClinGen:CA350609
single nucleotide variantNM_177438.3(DICER1):c.489C>G (p.Tyr163Ter)DICER1Pathogenic149559647995596479GCcriteria provided, single submitterClinGen:CA349806