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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.5084_5085insG (p.Phe1695fs) | BRCA1 | Pathogenic | 17 | 41215958 | 41215959 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5059_5060insCAAC (p.Val1687fs) | BRCA1 | Pathogenic | 17 | 41219639 | 41219640 | A | AGTTG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5043_5044insTAAT (p.Glu1682Ter) | BRCA1 | Pathogenic | 17 | 41219655 | 41219656 | C | CATTA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5008_5009insC (p.Arg1670fs) | BRCA1 | Pathogenic | 17 | 41219690 | 41219691 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4935_4936insAA (p.Val1646fs) | BRCA1 | Pathogenic | 17 | 41222995 | 41222996 | C | CTT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.4841dup (p.Ala1615fs) | BRCA1 | Pathogenic | 17 | 41223089 | 41223090 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4823_4824insG (p.Glu1609fs) | BRCA1 | Pathogenic | 17 | 41223107 | 41223108 | T | TC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4759_4760insA (p.Ser1587fs) | BRCA1 | Pathogenic | 17 | 41223171 | 41223172 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4697_4698insA (p.Gly1567fs) | BRCA1 | Pathogenic | 17 | 41223233 | 41223234 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4612_4613insG (p.Gln1538fs) | BRCA1 | Pathogenic | 17 | 41226410 | 41226411 | T | TC | reviewed by expert panel | - |
Copyright © Japan Institute for Health Security. All rights reserved.