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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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) | BRCA1 | Pathogenic | 17 | 41246167 | 41246168 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1499&base_change=ins A,ClinGen:CA000916 |
| Deletion | NM_007294.4(BRCA1):c.1383del (p.Phe461fs) | BRCA1 | Pathogenic | 17 | 41246165 | 41246165 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1502&base_change=del T,ClinGen:CA000920 |
| Duplication | NM_007294.4(BRCA1):c.1384_1393dup (p.Tyr465fs) | BRCA1 | Pathogenic | 17 | 41246154 | 41246155 | T | TAGGTTTTCCC | reviewed by expert panel | ClinGen:CA026488 |
| Deletion | NM_007294.4(BRCA1):c.1386del (p.Thr464fs) | BRCA1 | Pathogenic | 17 | 41246162 | 41246162 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1505&base_change=del G,ClinGen:CA000923 |
| Duplication | NM_007294.4(BRCA1):c.1386dup (p.Lys463fs) | BRCA1 | Pathogenic | 17 | 41246161 | 41246162 | T | TC | reviewed by expert panel | ClinGen:CA327738 |
| Indel | NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) | BRCA1 | Pathogenic | 17 | 41246158 | 41246161 | TTTT | CTTTC | reviewed by expert panel | ClinGen:CA000925 |
| Insertion | NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs) | BRCA1 | Pathogenic | 17 | 41246157 | 41246158 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA000928 |
| Deletion | NM_007294.4(BRCA1):c.1390del (p.Thr464fs) | BRCA1 | Pathogenic | 17 | 41246158 | 41246158 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1506&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):1509&base_change=del A,ClinGen:CA000926 |
| Deletion | NM_007294.4(BRCA1):c.1392del (p.Tyr465fs) | BRCA1 | Pathogenic | 17 | 41246156 | 41246156 | AG | A | reviewed by expert panel | ClinGen:CA000935 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1399A>T (p.Lys467Ter) | BRCA1 | Pathogenic | 17 | 41246149 | 41246149 | T | A | reviewed by expert panel | ClinGen:CA000941 |
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