Knowledge base for genomic medicine in Japanese
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家族性膵がん
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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2490_2497dup (p.Leu833fs) | BRCA1 | Pathogenic | 17 | 41245050 | 41245051 | A | AATGGATAC | reviewed by expert panel | ClinGen:CA10589845 |
| Deletion | NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) | BRCA1 | Pathogenic | 17 | 41245056 | 41245059 | ATACT | A | reviewed by expert panel | ClinGen:CA10589846 |
| Indel | NM_007294.4(BRCA1):c.2477_2492delinsTG (p.Thr826fs) | BRCA1 | Pathogenic | 17 | 41245056 | 41245071 | TACTTAAAGCCTTCTG | CA | reviewed by expert panel | ClinGen:CA10589847 |
| Insertion | NM_007294.4(BRCA1):c.2487_2488insCCCCT (p.Lys830fs) | BRCA1 | Pathogenic | 17 | 41245060 | 41245061 | T | TAGGGG | reviewed by expert panel | ClinGen:CA10589848 |
| Deletion | NM_007294.4(BRCA1):c.2481del (p.Gly828fs) | BRCA1 | Pathogenic | 17 | 41245067 | 41245067 | CT | C | reviewed by expert panel | ClinGen:CA10589849 |
| Deletion | NM_007294.4(BRCA1):c.2473del (p.Asp825fs) | BRCA1 | Pathogenic | 17 | 41245075 | 41245075 | TC | T | reviewed by expert panel | ClinGen:CA10589850 |
| Insertion | NM_007294.4(BRCA1):c.2442_2443insT (p.Ile815fs) | BRCA1 | Pathogenic | 17 | 41245105 | 41245106 | T | TA | reviewed by expert panel | ClinGen:CA10589851 |
| Duplication | NM_007294.4(BRCA1):c.2429dup (p.Asn810fs) | BRCA1 | Pathogenic | 17 | 41245118 | 41245119 | G | GT | reviewed by expert panel | ClinGen:CA10589852 |
| Duplication | NM_007294.4(BRCA1):c.2418dup (p.Ala807fs) | BRCA1 | Pathogenic | 17 | 41245129 | 41245130 | C | CT | reviewed by expert panel | ClinGen:CA10589853 |
| Deletion | NM_007294.4(BRCA1):c.2398_2411del (p.Lys800fs) | BRCA1 | Pathogenic | 17 | 41245137 | 41245150 | CTGACTCACACATTT | C | reviewed by expert panel | ClinGen:CA10589854 |
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