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.3504_3505insA (p.Asp1169fs)BRCA1Pathogenic174124404341244044CCTreviewed by expert panelClinGen:CA10589744
DeletionNM_007294.4(BRCA1):c.3489_3499del (p.Ser1164fs)BRCA1Pathogenic174124404941244059TCAGCAAAACTATreviewed by expert panelClinGen:CA10589745
DeletionNM_007294.4(BRCA1):c.3498del (p.Glu1167fs)BRCA1Pathogenic174124405041244050CACreviewed by expert panelClinGen:CA10589746
DeletionNM_007294.4(BRCA1):c.3482_3492del (p.Glu1161fs)BRCA1Pathogenic174124405641244066AACTAGTATCTTAreviewed by expert panelClinGen:CA10589747
DeletionNM_007294.4(BRCA1):c.3485_3491del (p.Asp1162fs)BRCA1Pathogenic174124405741244063ACTAGTATAreviewed by expert panelClinGen:CA10589748
DeletionNM_007294.4(BRCA1):c.3485_3488del (p.Asp1162fs)BRCA1Pathogenic174124406041244063AGTATAreviewed by expert panelClinGen:CA10589749
DeletionNM_007294.4(BRCA1):c.3479_3483del (p.Lys1160fs)BRCA1Pathogenic174124406541244069CTTCCTCreviewed by expert panelClinGen:CA10589750
DeletionNM_007294.4(BRCA1):c.3478_3479del (p.Lys1160fs)BRCA1Pathogenic174124406941244070CTTCreviewed by expert panelClinGen:CA10589751
single nucleotide variantNM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter)BRCA1Pathogenic174124408741244087ACreviewed by expert panelClinGen:CA10589752
IndelNM_007294.4(BRCA1):c.3416_3427delinsC (p.Ser1139fs)BRCA1Pathogenic174124412141244132ATGCATGACTACGreviewed by expert panelClinGen:CA10589753