Knowledge base for genomic medicine in Japanese
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家族性膵がん
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.3504_3505insA (p.Asp1169fs) | BRCA1 | Pathogenic | 17 | 41244043 | 41244044 | C | CT | reviewed by expert panel | ClinGen:CA10589744 |
| Deletion | NM_007294.4(BRCA1):c.3489_3499del (p.Ser1164fs) | BRCA1 | Pathogenic | 17 | 41244049 | 41244059 | TCAGCAAAACTA | T | reviewed by expert panel | ClinGen:CA10589745 |
| Deletion | NM_007294.4(BRCA1):c.3498del (p.Glu1167fs) | BRCA1 | Pathogenic | 17 | 41244050 | 41244050 | CA | C | reviewed by expert panel | ClinGen:CA10589746 |
| Deletion | NM_007294.4(BRCA1):c.3482_3492del (p.Glu1161fs) | BRCA1 | Pathogenic | 17 | 41244056 | 41244066 | AACTAGTATCTT | A | reviewed by expert panel | ClinGen:CA10589747 |
| Deletion | NM_007294.4(BRCA1):c.3485_3491del (p.Asp1162fs) | BRCA1 | Pathogenic | 17 | 41244057 | 41244063 | ACTAGTAT | A | reviewed by expert panel | ClinGen:CA10589748 |
| Deletion | NM_007294.4(BRCA1):c.3485_3488del (p.Asp1162fs) | BRCA1 | Pathogenic | 17 | 41244060 | 41244063 | AGTAT | A | reviewed by expert panel | ClinGen:CA10589749 |
| Deletion | NM_007294.4(BRCA1):c.3479_3483del (p.Lys1160fs) | BRCA1 | Pathogenic | 17 | 41244065 | 41244069 | CTTCCT | C | reviewed by expert panel | ClinGen:CA10589750 |
| Deletion | NM_007294.4(BRCA1):c.3478_3479del (p.Lys1160fs) | BRCA1 | Pathogenic | 17 | 41244069 | 41244070 | CTT | C | reviewed by expert panel | ClinGen:CA10589751 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter) | BRCA1 | Pathogenic | 17 | 41244087 | 41244087 | A | C | reviewed by expert panel | ClinGen:CA10589752 |
| Indel | NM_007294.4(BRCA1):c.3416_3427delinsC (p.Ser1139fs) | BRCA1 | Pathogenic | 17 | 41244121 | 41244132 | ATGCATGACTAC | G | reviewed by expert panel | ClinGen:CA10589753 |
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