Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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.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 |
| Deletion | NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer) | BRCA1 | Pathogenic | 17 | 41245061 | 41245062 | TAA | T | reviewed by expert panel | ClinGen:CA001656 |
| Deletion | NM_007294.4(BRCA1):c.2487del (p.Phe829fs) | BRCA1 | Pathogenic | 17 | 41245061 | 41245061 | TA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2606&base_change=del T,ClinGen:CA001657 |
| Duplication | NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter) | BRCA1 | Pathogenic | 17 | 41245060 | 41245061 | T | TA | reviewed by expert panel | ClinGen:CA327816 |
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