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)
DeletionNM_177438.3(DICER1):c.2988-20_2988delDICER1Pathogenic149557212095572140GTCTGTAAGAATTCCAAAACAAGcriteria provided, single submitter-
single nucleotide variantNM_177438.3(DICER1):c.4050+2T>CDICER1Pathogenic149556968195569681AGcriteria provided, single submitter-
single nucleotide variantNM_177438.3(DICER1):c.307+1G>CDICER1Likely pathogenic149559885195598851CGcriteria provided, single submitter-
single nucleotide variantNM_177438.3(DICER1):c.5095+1G>ADICER1Likely pathogenic149556216195562161CTcriteria provided, multiple submitters, no conflicts-
DeletionNC_000014.9:g.(?_95090488)_(95133468_?)delDICER1Pathogenic149555682595599805nanacriteria provided, single submitter-
single nucleotide variantNM_177438.3(DICER1):c.5365-1G>ADICER1Pathogenic/Likely pathogenic149555770395557703CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_177438.3(DICER1):c.238G>T (p.Glu80Ter)DICER1Likely pathogenic149559892195598921CAreviewed by expert panel-
DeletionNM_177438.3(DICER1):c.1280_1283del (p.Lys427fs)DICER1Pathogenic149559062695590629CTCTTCcriteria provided, single submitter-
single nucleotide variantNM_177438.3(DICER1):c.1501C>T (p.Gln501Ter)DICER1Pathogenic149558396795583967GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_177438.3(DICER1):c.2018C>G (p.Ser673Ter)DICER1Pathogenic149557945195579451GCcriteria provided, single submitter-