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.3158_3159insG (p.Val1054fs) | BRCA1 | Pathogenic | 17 | 41244389 | 41244390 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3277&base_change=ins G,ClinGen:CA002060 |
| Insertion | NM_007294.4(BRCA1):c.3194_3195insG (p.Asp1065fs) | BRCA1 | Pathogenic | 17 | 41244353 | 41244354 | A | AC | criteria provided, single submitter | Breast Cancer Information Core (BIC) (BRCA1):3313&base_change=ins G,ClinGen:CA002080 |
| Insertion | NM_007294.4(BRCA1):c.3256_3257insGA (p.Leu1086Ter) | BRCA1 | Pathogenic | 17 | 41244291 | 41244292 | A | ATC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3375&base_change=ins GA,ClinGen:CA002104 |
| Insertion | NM_007294.4(BRCA1):c.3330_3331insA (p.Gln1111fs) | BRCA1 | Pathogenic | 17 | 41244217 | 41244218 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3449&base_change=ins A,ClinGen:CA002155 |
| Duplication | NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) | BRCA1 | Pathogenic | 17 | 41244196 | 41244197 | G | GA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3470&base_change=ins T,ClinGen:CA002171 |
| Deletion | NM_007294.4(BRCA1):c.3357del (p.Val1120fs) | BRCA1 | Pathogenic | 17 | 41244191 | 41244191 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3476&base_change=del T,ClinGen:CA002177 |
| Duplication | NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs) | BRCA1 | Pathogenic | 17 | 41244085 | 41244086 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3581&base_change=ins A,ClinGen:CA002233 |
| Deletion | NM_007294.4(BRCA1):c.243del (p.Gln81fs) | BRCA1 | Pathogenic | 17 | 41256943 | 41256943 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):362&base_change=del A,ClinGen:CA001628 |
| Deletion | NM_007294.4(BRCA1):c.3548_3549del (p.Lys1183fs) | BRCA1 | Pathogenic | 17 | 41243999 | 41244000 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3667&base_change=del AA,ClinGen:CA002268 |
| Duplication | NM_007294.4(BRCA1):c.3620dup (p.Lys1208fs) | BRCA1 | Pathogenic | 17 | 41243927 | 41243928 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3739&base_change=ins A,ClinGen:CA002315 |
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