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.5207T>C (p.Val1736Ala)BRCA1Pathogenic174120913941209139AGreviewed by expert panelClinGen:CA003357,UniProtKB:P38398#VAR_070506,OMIM:113705.0038
DeletionNM_007294.4(BRCA1):c.5259del (p.Glu1754fs)BRCA1Pathogenic174120908741209087CTCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):5378&base_change=del A,ClinGen:CA003400
single nucleotide variantNM_007294.4(BRCA1):c.5277+1G>ABRCA1Pathogenic174120906841209068CTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=G to A,BRCA1-HCI:BRCA1_00146,ClinGen:CA003419
DuplicationNM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)BRCA1Pathogenic174120312241203123GGCreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):5404&base_change=ins G,ClinGen:CA003446
single nucleotide variantNM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)BRCA1Pathogenic174120311541203115ACreviewed by expert panelBRCA1-HCI:BRCA1_00044,ClinGen:CA003452,UniProtKB:P38398#VAR_063909
DeletionNM_007294.4(BRCA1):c.5335del (p.Gln1779fs)BRCA1Pathogenic174120120941201209TGTreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA1):5454&base_change=del C,ClinGen:CA003507
single nucleotide variantNM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)BRCA1Pathogenic174120119841201198CTreviewed by expert panelClinGen:CA003514
single nucleotide variantNM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)BRCA1Pathogenic174120118141201181CAreviewed by expert panelBRCA1-HCI:BRCA1_00047,ClinGen:CA003530,UniProtKB:P38398#VAR_063910
DeletionNM_007294.4(BRCA1):c.5386del (p.Ser1796fs)BRCA1Pathogenic174120115841201158GAGreviewed by expert panelClinGen:CA003545
single nucleotide variantNM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)BRCA1Pathogenic174120115741201157GTreviewed by expert panelClinGen:CA003546