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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.190_193del (p.Cys64fs) | BRCA1 | Pathogenic | 17 | 41258492 | 41258495 | TTACA | T | reviewed by expert panel | ClinGen:CA001242 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter) | BRCA1 | Pathogenic | 17 | 41245636 | 41245636 | C | A | reviewed by expert panel | ClinGen:CA001256 |
| Deletion | NM_007294.4(BRCA1):c.1912del (p.Glu638fs) | BRCA1 | Pathogenic | 17 | 41245636 | 41245636 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2031&base_change=del G,ClinGen:CA001254 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter) | BRCA1 | Pathogenic | 17 | 41245632 | 41245632 | A | T | reviewed by expert panel | ClinGen:CA001259 |
| single nucleotide variant | NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) | BRCA1 | Pathogenic | 17 | 41258494 | 41258494 | C | T | reviewed by expert panel | ClinGen:CA001262,UniProtKB:P38398#VAR_007759 |
| Deletion | NM_007294.4(BRCA1):c.1936del (p.Ser646fs) | BRCA1 | Pathogenic | 17 | 41245612 | 41245612 | CT | C | reviewed by expert panel | ClinGen:CA001281 |
| Deletion | NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs) | BRCA1 | Pathogenic | 17 | 41245601 | 41245610 | TCTCTTCACTG | T | reviewed by expert panel | ClinGen:CA001282 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1945G>T (p.Glu649Ter) | BRCA1 | Pathogenic | 17 | 41245603 | 41245603 | C | A | reviewed by expert panel | ClinGen:CA001287 |
| Deletion | NM_007294.4(BRCA1):c.1949_1950del (p.Ile650fs) | BRCA1 | Pathogenic | 17 | 41245598 | 41245599 | TTA | T | reviewed by expert panel | ClinGen:CA001289 |
| Deletion | NM_007294.4(BRCA1):c.1952del (p.Lys651fs) | BRCA1 | Pathogenic | 17 | 41245596 | 41245596 | CT | C | reviewed by expert panel | ClinGen:CA001291 |
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