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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs) | BRCA1 | Pathogenic | 17 | 41243998 | 41243999 | CCT | C | reviewed by expert panel | ClinGen:CA002270 |
| Indel | NM_007294.4(BRCA1):c.3549_3550delinsT (p.Lys1183fs) | BRCA1 | Pathogenic | 17 | 41243998 | 41243999 | CT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3668&base_change=del AG ins T,ClinGen:CA002271 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3553G>T (p.Glu1185Ter) | BRCA1 | Pathogenic | 17 | 41243995 | 41243995 | C | A | reviewed by expert panel | ClinGen:CA002272 |
| Deletion | NM_007294.4(BRCA1):c.3569_3570del (p.Pro1190fs) | BRCA1 | Pathogenic | 17 | 41243978 | 41243979 | TAG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3688&base_change=del CT,ClinGen:CA002276 |
| Duplication | NM_007294.4(BRCA1):c.3578dup (p.Thr1194fs) | BRCA1 | Pathogenic | 17 | 41243969 | 41243970 | G | GA | reviewed by expert panel | ClinGen:CA327880 |
| Deletion | NM_007294.4(BRCA1):c.3580del (p.Thr1194fs) | BRCA1 | Pathogenic | 17 | 41243968 | 41243968 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3699&base_change=del A,ClinGen:CA002279 |
| Deletion | NM_007294.4(BRCA1):c.3583del (p.His1195fs) | BRCA1 | Pathogenic | 17 | 41243965 | 41243965 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3700&base_change=del C,ClinGen:CA002282 |
| Duplication | NM_007294.4(BRCA1):c.3586dup (p.Thr1196fs) | BRCA1 | Pathogenic | 17 | 41243961 | 41243962 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3705&base_change=ins A,ClinGen:CA002286 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3593T>A (p.Leu1198Ter) | BRCA1 | Pathogenic | 17 | 41243955 | 41243955 | A | T | reviewed by expert panel | ClinGen:CA002292 |
| Deletion | NM_007294.4(BRCA1):c.3596_3602del (p.Ala1199fs) | BRCA1 | Pathogenic | 17 | 41243946 | 41243952 | ACCCTGAG | A | reviewed by expert panel | ClinGen:CA002293 |
Copyright © Japan Institute for Health Security. All rights reserved.