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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter) | BRCA1 | Pathogenic | 17 | 41244309 | 41244309 | A | T | reviewed by expert panel | ClinGen:CA002097 |
| Duplication | NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs) | BRCA1 | Pathogenic | 17 | 41244294 | 41244295 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3372&base_change=ins A,ClinGen:CA002101 |
| Duplication | NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244292 | 41244293 | A | ATC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3374&base_change=ins GA,ClinGen:CA002103 |
| Duplication | NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244292 | 41244293 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3373&base_change=ins A,ClinGen:CA002102 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter) | BRCA1 | Pathogenic | 17 | 41244291 | 41244291 | A | T | reviewed by expert panel | ClinGen:CA002106 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) | BRCA1 | Pathogenic | 17 | 41244291 | 41244291 | A | C | reviewed by expert panel | ClinGen:CA002108 |
| Duplication | NM_007294.4(BRCA1):c.3257dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244290 | 41244291 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3376&base_change=ins T,ClinGen:CA002105 |
| Deletion | NM_007294.4(BRCA1):c.3262del (p.Val1088fs) | BRCA1 | Pathogenic | 17 | 41244286 | 41244286 | AC | A | reviewed by expert panel | ClinGen:CA002110 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter) | BRCA1 | Pathogenic | 17 | 41244280 | 41244280 | G | A | reviewed by expert panel | ClinGen:CA002112 |
| Deletion | NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) | BRCA1 | Pathogenic | 17 | 41244269 | 41244269 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3398&base_change=del C,ClinGen:CA002116 |
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