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.1576C>T (p.Gln526Ter)BRCA1Pathogenic174124597241245972GAreviewed by expert panelClinGen:CA001054
DeletionNM_007294.4(BRCA1):c.1583_1589del (p.Thr528fs)BRCA1Pathogenic174124595941245965TTCAGGAGTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):1701&base_change=del ACTCCTG,ClinGen:CA001058
DeletionNM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)BRCA1Pathogenic174124594741245953CTGATTTACreviewed by expert panelClinGen:CA001060
single nucleotide variantNM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)BRCA1Pathogenic174124594841245948GAreviewed by expert panelClinGen:CA001062
DuplicationNM_007294.4(BRCA1):c.1601dup (p.Thr536fs)BRCA1Pathogenic174124594641245947CCTreviewed by expert panelClinGen:CA327756
DeletionNM_007294.4(BRCA1):c.1608_1611del (p.Asn537fs)BRCA1Pathogenic174124593741245940GGTTAGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):1727&base_change=del TAAC,ClinGen:CA001066
single nucleotide variantNM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)BRCA1Pathogenic174125852541258525GAreviewed by expert panelClinGen:CA001069
DeletionNM_007294.4(BRCA1):c.160del (p.Gln54fs)BRCA1Pathogenic174125852541258525TGTreviewed by expert panelClinGen:CA001071
single nucleotide variantNM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)BRCA1Pathogenic174124593641245936GAreviewed by expert panelClinGen:CA001073
single nucleotide variantNM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)BRCA1Pathogenic174124592741245927GAreviewed by expert panelClinGen:CA001079