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。
家族性膵がん
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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.3650_3651insA (p.Ser1217_Ser1218insTer) | BRCA1 | Pathogenic | 17 | 41243897 | 41243898 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3580_3581insT (p.Thr1194fs) | BRCA1 | Pathogenic | 17 | 41243967 | 41243968 | G | GA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3576_3577insAA (p.Phe1193fs) | BRCA1 | Pathogenic | 17 | 41243971 | 41243972 | A | ATT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3506dup (p.Asp1169fs) | BRCA1 | Pathogenic | 17 | 41244041 | 41244042 | G | GT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3416dup (p.Ser1139fs) | BRCA1 | Pathogenic | 17 | 41244131 | 41244132 | A | AC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3333dup (p.Glu1112fs) | BRCA1 | Pathogenic | 17 | 41244214 | 41244215 | C | CT | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.3317del (p.Pro1106fs) | BRCA1 | Pathogenic | 17 | 41244231 | 41244231 | AG | A | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3309_3310insC (p.Lys1104fs) | BRCA1 | Pathogenic | 17 | 41244238 | 41244239 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3257_3258insGA (p.Gly1087fs) | BRCA1 | Pathogenic | 17 | 41244290 | 41244291 | T | TTC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3196dup (p.Glu1066fs) | BRCA1 | Pathogenic | 17 | 41244351 | 41244352 | T | TC | reviewed by expert panel | - |
Copyright © Japan Institute for Health Security. All rights reserved.