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.4253T>G (p.Leu1418Ter) | BRCA1 | Pathogenic | 17 | 41234525 | 41234525 | A | C | reviewed by expert panel | ClinGen:CA002733 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) | BRCA1 | Pathogenic | 17 | 41234520 | 41234520 | G | A | reviewed by expert panel | ClinGen:CA002737 |
| Duplication | NM_007294.4(BRCA1):c.4266dup (p.Ser1423fs) | BRCA1 | Pathogenic | 17 | 41234511 | 41234512 | T | TC | reviewed by expert panel | ClinGen:CA327926 |
| Deletion | NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs) | BRCA1 | Pathogenic | 17 | 41234495 | 41234496 | GCT | G | reviewed by expert panel | ClinGen:CA002747 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4287C>A (p.Tyr1429Ter) | BRCA1 | Pathogenic | 17 | 41234491 | 41234491 | G | T | reviewed by expert panel | ClinGen:CA002749 |
| Duplication | NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs) | BRCA1 | Pathogenic | 17 | 41234477 | 41234478 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4419&base_change=ins A,ClinGen:CA002758 |
| Deletion | NM_007294.4(BRCA1):c.431del (p.Asn144fs) | BRCA1 | Pathogenic | 17 | 41256149 | 41256149 | AT | A | reviewed by expert panel | ClinGen:CA002766 |
| Duplication | NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs) | BRCA1 | Pathogenic | 17 | 41234456 | 41234457 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4440&base_change=ins G,ClinGen:CA002767 |
| Deletion | NM_007294.4(BRCA1):c.4331_4332del (p.Asn1444fs) | BRCA1 | Pathogenic | 17 | 41234446 | 41234447 | GAT | G | reviewed by expert panel | ClinGen:CA002772 |
| Deletion | NM_007294.4(BRCA1):c.4331_4338del (p.Asn1444fs) | BRCA1 | Pathogenic | 17 | 41234440 | 41234447 | GTTCTGGAT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4450&base_change=del ATCCAGAA,ClinGen:CA002773 |
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