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腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) | BRCA1 | Pathogenic | 17 | 41245136 | 41245137 | ACT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2530&base_change=del AG,ClinGen:CA001605 |
| Deletion | NM_007294.4(BRCA1):c.2424del (p.Phe808fs) | BRCA1 | Pathogenic | 17 | 41245124 | 41245124 | CA | C | reviewed by expert panel | ClinGen:CA001618 |
| Deletion | NM_007294.4(BRCA1):c.2433del (p.Lys812fs) | BRCA1 | Pathogenic | 17 | 41245115 | 41245115 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2552&base_change=del C,ClinGen:CA001624 |
| Deletion | NM_007294.4(BRCA1):c.2457del (p.Asp821fs) | BRCA1 | Pathogenic | 17 | 41245091 | 41245091 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2576&base_change=del C,ClinGen:CA001638,OMIM:113705.0039 |
| Deletion | NM_007294.4(BRCA1):c.2475del (p.Asp825fs) | BRCA1 | Pathogenic | 17 | 41245073 | 41245073 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2594&base_change=del C,ClinGen:CA001646 |
| Deletion | NM_007294.4(BRCA1):c.2515del (p.His839fs) | BRCA1 | Pathogenic | 17 | 41245033 | 41245033 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2634&base_change=del C,ClinGen:CA001664 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) | BRCA1 | Pathogenic | 17 | 41244985 | 41244985 | G | A | reviewed by expert panel | ClinGen:CA001689 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) | BRCA1 | Pathogenic | 17 | 41244945 | 41244945 | G | C | reviewed by expert panel | ClinGen:CA001714 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) | BRCA1 | Pathogenic | 17 | 41244913 | 41244913 | C | A | reviewed by expert panel | ClinGen:CA001729 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter) | BRCA1 | Pathogenic | 17 | 41244871 | 41244871 | T | A | reviewed by expert panel | ClinGen:CA001754 |
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