Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter) | BRCA1 | Pathogenic | 17 | 41245050 | 41245051 | A | AATGGATACTT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2607&base_change=dup AAGTATCCAT,ClinGen:CA026481 |
| Deletion | NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) | BRCA1 | Pathogenic | 17 | 41245040 | 41245041 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2626&base_change=del AA,ClinGen:CA001661 |
| Deletion | NM_007294.4(BRCA1):c.2513del (p.Asn838fs) | BRCA1 | Pathogenic | 17 | 41245035 | 41245035 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2632&base_change=del A,ClinGen:CA001663 |
| Deletion | NM_007294.4(BRCA1):c.2518del (p.Ser840fs) | BRCA1 | Pathogenic | 17 | 41245030 | 41245030 | CT | C | reviewed by expert panel | ClinGen:CA001669 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter) | BRCA1 | Pathogenic | 17 | 41245003 | 41245003 | C | A | reviewed by expert panel | ClinGen:CA001680 |
| Deletion | NM_007294.4(BRCA1):c.2551del (p.Glu851fs) | BRCA1 | Pathogenic | 17 | 41244997 | 41244997 | TC | T | reviewed by expert panel | ClinGen:CA001681 |
| Deletion | NM_007294.4(BRCA1):c.2556del (p.Asp853fs) | BRCA1 | Pathogenic | 17 | 41244992 | 41244992 | CA | C | reviewed by expert panel | ClinGen:CA001683 |
| Duplication | NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter) | BRCA1 | Pathogenic | 17 | 41244991 | 41244992 | C | CA | reviewed by expert panel | ClinGen:CA327819 |
| Duplication | NM_007294.4(BRCA1):c.2558dup (p.Asp853fs) | BRCA1 | Pathogenic | 17 | 41244989 | 41244990 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2676&base_change=ins A,ClinGen:CA001684 |
| Duplication | NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs) | BRCA1 | Pathogenic | 17 | 41244986 | 41244987 | A | AGC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2680&base_change=ins GC,ClinGen:CA001686 |
Copyright © National Center for Global Health and Medicine. All rights reserved.