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_177438.2(DICER1):c.4748T>G (p.Leu1583Arg)DICER1Pathogenic149556250995562509ACcriteria provided, single submitterOMIM Allelic Variant:606241.0001,UniProtKB (protein):Q9UPY3#VAR_063150
single nucleotide variantNM_177438.2(DICER1):c.1507G>T (p.Glu503Ter)DICER1Pathogenic149558396195583961CAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606241.0002
single nucleotide variantNM_177438.2(DICER1):c.2830C>T (p.Arg944Ter)DICER1Pathogenic149557253595572535GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606241.0003
single nucleotide variantNM_030621.4(DICER1):c.1630C>T (p.Arg544Ter)DICER1Pathogenic149558291295582912GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606241.0005
single nucleotide variantNM_177438.2(DICER1):c.559C>T (p.Arg187Ter)DICER1Pathogenic149559640995596409GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_177438.2(DICER1):c.489C>G (p.Tyr163Ter)DICER1Pathogenic149559647995596479GCcriteria provided, single submitter-
single nucleotide variantNM_030621.4(DICER1):c.5103C>A (p.Tyr1701Ter)DICER1Pathogenic/Likely pathogenic149556048695560486GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter)DICER1Pathogenic149556250395562503GCcriteria provided, multiple submitters, no conflicts-
duplicationNM_177438.2(DICER1):c.4633dup (p.Ser1545fs)DICER1Pathogenic/Likely pathogenic149556262395562624GGAcriteria provided, multiple submitters, no conflicts-
deletionNM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs)DICER1Pathogenic149556284795562850GAGAAGcriteria provided, multiple submitters, no conflicts-