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)
DuplicationNM_007294.4(BRCA1):c.5133dup (p.Trp1712fs)BRCA1Pathogenic174121590941215910AATreviewed by expert panelClinGen:CA10586603
DeletionNM_007294.4(BRCA1):c.5123del (p.Ala1708fs)BRCA1Pathogenic174121592041215920CGCreviewed by expert panelClinGen:CA10586604
DeletionNM_007294.4(BRCA1):c.5027_5031del (p.Thr1675_Leu1676insTer)BRCA1Pathogenic174121966841219672TAGTTATreviewed by expert panelClinGen:CA003156
DeletionNM_007294.4(BRCA1):c.4969del (p.Gly1656_Leu1657insTer)BRCA1Pathogenic174122296241222962AGAreviewed by expert panelClinGen:CA10586605
DuplicationNM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)BRCA1Pathogenic174122299741222998CCTTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):5052&base_change=ins AA,ClinGen:CA003083
DeletionNM_007294.4(BRCA1):c.4806del (p.Gln1604fs)BRCA1Pathogenic174122312541223125GAGreviewed by expert panelClinGen:CA10586607
InsertionNM_007294.4(BRCA1):c.4609_4610insCC (p.Gln1537fs)BRCA1Pathogenic174122641341226414TTGGreviewed by expert panelClinGen:CA10586608
DeletionNM_007294.4(BRCA1):c.4483del (p.Arg1495fs)BRCA1Pathogenic174122850641228506CTCreviewed by expert panelClinGen:CA10586609
InsertionNM_007294.4(BRCA1):c.4193_4194insGG (p.Asp1398fs)BRCA1Pathogenic174123458441234585AACCreviewed by expert panelClinGen:CA10586610
DeletionNM_007294.4(BRCA1):c.4139_4140del (p.Glu1380fs)BRCA1Pathogenic174124300641243007CTTCreviewed by expert panelClinGen:CA10586611