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遺伝性乳がん・卵巣がん症候群
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.3288_3289del (p.Leu1098fs) | BRCA1 | Pathogenic | 17 | 41244259 | 41244260 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3407&base_change=del AA,ClinGen:CA002121 |
| Deletion | NM_007294.4(BRCA1):c.3289del (p.Ser1097fs) | BRCA1 | Pathogenic | 17 | 41244259 | 41244259 | CT | C | reviewed by expert panel | ClinGen:CA002123 |
| Deletion | NM_007294.4(BRCA1):c.3292_3293del (p.Leu1098fs) | BRCA1 | Pathogenic | 17 | 41244255 | 41244256 | AAG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3411&base_change=del CT,ClinGen:CA002124 |
| Deletion | NM_007294.4(BRCA1):c.3296del (p.Pro1099fs) | BRCA1 | Pathogenic | 17 | 41244252 | 41244252 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3415&base_change=del C,ClinGen:CA002128 |
| Deletion | NM_007294.4(BRCA1):c.329_330del (p.Lys110fs) | BRCA1 | Pathogenic | 17 | 41256250 | 41256251 | CCT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):448&base_change=del AG,ClinGen:CA002125 |
| Duplication | NM_007294.4(BRCA1):c.329dup (p.Glu111fs) | BRCA1 | Pathogenic | 17 | 41256250 | 41256251 | C | CT | reviewed by expert panel | ClinGen:CA002126,Breast Cancer Information Core (BIC) (BRCA1):448&base_change=ins A |
| Insertion | NM_007294.4(BRCA1):c.32_33insC (p.Gln12fs) | BRCA1 | Pathogenic | 17 | 41276081 | 41276082 | T | TG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):151&base_change=ins C,ClinGen:CA002093 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter) | BRCA1 | Pathogenic | 17 | 41244239 | 41244239 | A | T | reviewed by expert panel | ClinGen:CA002136 |
| Deletion | NM_007294.4(BRCA1):c.3314del (p.His1105fs) | BRCA1 | Pathogenic | 17 | 41244234 | 41244234 | AT | A | reviewed by expert panel | ClinGen:CA002138 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter) | BRCA1 | Pathogenic | 17 | 41244229 | 41244229 | C | A | reviewed by expert panel | ClinGen:CA002139 |
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