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)
single nucleotide variantNM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)BRCA1Pathogenic174124474841244748GAreviewed by expert panelClinGen:CA001836
DeletionNM_007294.4(BRCA1):c.2805del (p.Asp936fs)BRCA1Pathogenic174124474341244743CTCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2924&base_change=del A,ClinGen:CA001837
DeletionNM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs)BRCA1Pathogenic174124473741244740GCTTAGreviewed by expert panelClinGen:CA001840
DeletionNM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)BRCA1Pathogenic174124473541244736TGGTreviewed by expert panelClinGen:CA001843
IndelNM_007294.4(BRCA1):c.2812_2813delinsG (p.Pro938fs)BRCA1Pathogenic174124473541244736GGCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2931&base_change=del CC ins G,ClinGen:CA001844
DeletionNM_007294.4(BRCA1):c.2830del (p.Cys944fs)BRCA1Pathogenic174124471841244718CACreviewed by expert panelClinGen:CA001847
single nucleotide variantNM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)BRCA1Pathogenic174124471641244716ATreviewed by expert panelClinGen:CA001848
DeletionNM_007294.4(BRCA1):c.2834_2835del (p.Ser945fs)BRCA1Pathogenic174124471341244714TACTreviewed by expert panelClinGen:CA001850
IndelNM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)BRCA1Pathogenic174124471241244714TACGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2953&base_change=del GTA ins C,ClinGen:CA001852
DuplicationNM_007294.4(BRCA1):c.2835dup (p.Ile946fs)BRCA1Pathogenic174124471241244713TTAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):2954&base_change=ins T,ClinGen:CA001853