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.3309T>A (p.Cys1103Ter)BRCA1Pathogenic174124423941244239ATreviewed by expert panelClinGen:CA002136
DeletionNM_007294.4(BRCA1):c.3314del (p.His1105fs)BRCA1Pathogenic174124423441244234ATAreviewed by expert panelClinGen:CA002138
single nucleotide variantNM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)BRCA1Pathogenic174124422941244229CAreviewed by expert panelClinGen:CA002139
DeletionNM_007294.4(BRCA1):c.3323_3326del (p.Ile1108fs)BRCA1Pathogenic174124422241244225TTTTATreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):3439&base_change=del AAAT,ClinGen:CA002140
DeletionNM_007294.4(BRCA1):c.3325_3329del (p.Lys1109fs)BRCA1Pathogenic174124421941244223CTTTTTCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):3444&base_change=del AAAAA,ClinGen:CA002143
DeletionNM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)BRCA1Pathogenic174124421941244222CTTTTCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):3445&base_change=del AAAA,ClinGen:CA002144
DeletionNM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs)BRCA1Pathogenic174124421841244219GCTGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):3448&base_change=del AG,ClinGen:CA002150
DeletionNM_007294.4(BRCA1):c.3329del (p.Lys1110fs)BRCA1Pathogenic174124421941244219CTCreviewed by expert panelClinGen:CA002153
DuplicationNM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)BRCA1Pathogenic174124421841244219CCTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):3448&base_change=ins A,ClinGen:CA002151
single nucleotide variantNM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter)BRCA1Pathogenic174124421741244217GAreviewed by expert panelClinGen:CA002158