Knowledge base for genomic medicine in Japanese
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家族性膵がん
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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.1211_1212insCT (p.Glu404fs) | BRCA1 | Pathogenic | 17 | 41246336 | 41246337 | T | TAG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1180_1181insT (p.Gly394fs) | BRCA1 | Pathogenic | 17 | 41246367 | 41246368 | C | CA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1107_1108insCT (p.Val370fs) | BRCA1 | Pathogenic | 17 | 41246440 | 41246441 | C | CAG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1102_1103insC (p.Glu368fs) | BRCA1 | Pathogenic | 17 | 41246445 | 41246446 | T | TG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.1085dup (p.Asn363fs) | BRCA1 | Pathogenic | 17 | 41246462 | 41246463 | C | CT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1081_1082insA (p.Ser361fs) | BRCA1 | Pathogenic | 17 | 41246466 | 41246467 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1045_1046insTCAC (p.Glu349fs) | BRCA1 | Pathogenic | 17 | 41246502 | 41246503 | T | TGTGA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1018_1019insA (p.Val340fs) | BRCA1 | Pathogenic | 17 | 41246529 | 41246530 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1017_1018insC (p.Val340fs) | BRCA1 | Pathogenic | 17 | 41246530 | 41246531 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.985_986insC (p.Asn329fs) | BRCA1 | Pathogenic | 17 | 41246562 | 41246563 | T | TG | reviewed by expert panel | - |
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