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.5503C>T (p.Arg1835Ter) | BRCA1 | Pathogenic | 17 | 41197784 | 41197784 | G | A | reviewed by expert panel | ClinGen:CA003674 |
| Deletion | NM_007294.4(BRCA1):c.5503_5564del (p.Arg1835fs) | BRCA1 | Pathogenic | 17 | 41197723 | 41197784 | TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5622&base_change=del 62,ClinGen:CA003672 |
| Deletion | NM_007294.4(BRCA1):c.5503del (p.Arg1835fs) | BRCA1 | Pathogenic | 17 | 41197784 | 41197784 | CG | C | reviewed by expert panel | ClinGen:CA003675 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5506G>T (p.Glu1836Ter) | BRCA1 | Pathogenic | 17 | 41197781 | 41197781 | C | A | reviewed by expert panel | ClinGen:CA003679 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) | BRCA1 | Pathogenic | 17 | 41197778 | 41197778 | A | C | reviewed by expert panel | ClinGen:CA003681 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) | BRCA1 | Pathogenic | 17 | 41197777 | 41197777 | C | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5629&base_change=G to A,ClinGen:CA003684 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) | BRCA1 | Pathogenic | 17 | 41197776 | 41197776 | C | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5630&base_change=G to A,ClinGen:CA003685 |
| Deletion | NM_007294.4(BRCA1):c.5512del (p.Val1838fs) | BRCA1 | Pathogenic | 17 | 41197775 | 41197775 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5629&base_change=del G,ClinGen:CA003683 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) | BRCA1 | Pathogenic | 17 | 41197774 | 41197774 | A | T | reviewed by expert panel | BRCA1-HCI:BRCA1_00039,ClinGen:CA003690 |
| Deletion | NM_007294.4(BRCA1):c.5521del (p.Ser1841fs) | BRCA1 | Pathogenic | 17 | 41197766 | 41197766 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5640&base_change=del A,ClinGen:CA003695 |
Copyright © Japan Institute for Health Security. All rights reserved.