Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
InsertionNM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)BRCA1Pathogenic174124493541244936CCAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2731&base_change=ins T,ClinGen:CA001717
IndelNM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)BRCA1Pathogenic174124493641244936GAAreviewed by expert panelClinGen:CA327824
DuplicationNM_007294.4(BRCA1):c.2612dup (p.Phe872fs)BRCA1Pathogenic174124493541244936CCGreviewed by expert panelClinGen:CA327825
DuplicationNM_007294.4(BRCA1):c.2617dup (p.Ser873fs)BRCA1Pathogenic174124493041244931GGAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2735&base_change=ins T,ClinGen:CA001723
single nucleotide variantNM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)BRCA1Pathogenic174124490741244907CAreviewed by expert panelClinGen:CA001732
DeletionNM_007294.4(BRCA1):c.2643del (p.Glu881fs)BRCA1Pathogenic174124490541244905ATAreviewed by expert panelClinGen:CA001733
DeletionNM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer)BRCA1Pathogenic174124490041244902TGCATreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2765&base_change=del TGC,ClinGen:CA001734
InsertionNM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)BRCA1Pathogenic174124488841244889GGTreviewed by expert panelClinGen:CA001741
DuplicationNM_007294.4(BRCA1):c.2659dup (p.Ala887fs)BRCA1Pathogenic174124488841244889GGCreviewed by expert panelClinGen:CA327828
DuplicationNM_007294.4(BRCA1):c.2665dup (p.Ser889fs)BRCA1Pathogenic174124488241244883GGAreviewed by expert panelClinGen:CA327829