Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| 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.3178G>T (p.Glu1060Ter) | BRCA1 | Pathogenic | 17 | 41244370 | 41244370 | C | A | reviewed by expert panel | ClinGen:CA002070 |
| Deletion | NM_007294.4(BRCA1):c.317del (p.Asn106fs) | BRCA1 | Pathogenic | 17 | 41256263 | 41256263 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):436&base_change=del A,ClinGen:CA002072 |
| Deletion | NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer) | BRCA1 | Pathogenic | 17 | 41244367 | 41244367 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3300&base_change=del A,ClinGen:CA002073 |
| Deletion | NM_007294.4(BRCA1):c.3183del (p.Ile1061fs) | BRCA1 | Pathogenic | 17 | 41244365 | 41244365 | CT | C | reviewed by expert panel | ClinGen:CA002074 |
| Indel | NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer) | BRCA1 | Pathogenic | 17 | 41244359 | 41244360 | GG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3307&base_change=del CC ins G,ClinGen:CA002076 |
| Duplication | NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) | BRCA1 | Pathogenic | 17 | 41244354 | 41244355 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3312&base_change=ins G,ClinGen:CA002078 |
| Duplication | NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs) | BRCA1 | Pathogenic | 17 | 41244336 | 41244337 | T | TC | reviewed by expert panel | ClinGen:CA327859 |
| Deletion | NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer) | BRCA1 | Pathogenic | 17 | 41244334 | 41244334 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3333&base_change=del C,ClinGen:CA002084 |
| Deletion | NM_007294.4(BRCA1):c.321del (p.Phe107fs) | BRCA1 | Pathogenic | 17 | 41256259 | 41256259 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):440&base_change=del T,ClinGen:CA002085 |
| Deletion | NM_007294.4(BRCA1):c.3226del (p.Arg1076fs) | BRCA1 | Pathogenic | 17 | 41244322 | 41244322 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3345&base_change=del A,ClinGen:CA002089 |
Copyright © Japan Institute for Health Security. All rights reserved.