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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter) | BRCA1 | Pathogenic | 17 | 41245138 | 41245138 | G | A | reviewed by expert panel | ClinGen:CA001603 |
| single nucleotide variant | NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) | BRCA1 | Pathogenic | 17 | 41256945 | 41256945 | G | A | reviewed by expert panel | ClinGen:CA001613 |
| Deletion | NM_007294.4(BRCA1):c.2429del (p.Asn810fs) | BRCA1 | Pathogenic | 17 | 41245119 | 41245119 | GT | G | reviewed by expert panel | ClinGen:CA001622 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2434A>T (p.Lys812Ter) | BRCA1 | Pathogenic | 17 | 41245114 | 41245114 | T | A | reviewed by expert panel | ClinGen:CA001625 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter) | BRCA1 | Pathogenic | 17 | 41245111 | 41245111 | C | A | reviewed by expert panel | ClinGen:CA001626 |
| Deletion | NM_007294.4(BRCA1):c.2443del (p.Ile815fs) | BRCA1 | Pathogenic | 17 | 41245105 | 41245105 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2562&base_change=del A,ClinGen:CA001632 |
| Deletion | NM_007294.4(BRCA1):c.2450del (p.Gly817fs) | BRCA1 | Pathogenic | 17 | 41245098 | 41245098 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2569&base_change=del G,ClinGen:CA001635 |
| Deletion | NM_007294.4(BRCA1):c.2468del (p.Arg823fs) | BRCA1 | Pathogenic | 17 | 41245080 | 41245080 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2587&base_change=del G,ClinGen:CA001640 |
| Deletion | NM_007294.4(BRCA1):c.2476del (p.Thr826fs) | BRCA1 | Pathogenic | 17 | 41245072 | 41245072 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2595&base_change=del A,ClinGen:CA001647 |
| Deletion | NM_007294.4(BRCA1):c.2477del (p.Thr826fs) | BRCA1 | Pathogenic | 17 | 41245071 | 41245071 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2596&base_change=del C,ClinGen:CA001651 |
Copyright © Japan Institute for Health Security. All rights reserved.