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.955_956insGT (p.Asn319fs) | BRCA1 | Pathogenic | 17 | 41246592 | 41246593 | T | TAC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.905dup (p.Ala302_Glu303insTer) | BRCA1 | Pathogenic | 17 | 41246642 | 41246643 | A | AG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.903_904insT (p.Ala302fs) | BRCA1 | Pathogenic | 17 | 41246644 | 41246645 | C | CA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.876_879del (p.Thr293fs) | BRCA1 | Pathogenic | 17 | 41246669 | 41246672 | TAGTG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.834_835insA (p.His279fs) | BRCA1 | Pathogenic | 17 | 41246713 | 41246714 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.828_829insT (p.Asn277Ter) | BRCA1 | Pathogenic | 17 | 41246719 | 41246720 | T | TA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.816_817insTCCATGTGGA (p.Pro273fs) | BRCA1 | Pathogenic | 17 | 41246731 | 41246732 | G | GTCCACATGGA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.770_771insGA (p.His257fs) | BRCA1 | Pathogenic | 17 | 41246777 | 41246778 | A | ATC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.770dup (p.His257fs) | BRCA1 | Pathogenic | 17 | 41246777 | 41246778 | A | AT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.745dup (p.Thr249fs) | BRCA1 | Pathogenic | 17 | 41246802 | 41246803 | G | GT | reviewed by expert panel | - |
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