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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.4995_5007dup (p.Arg1670fs) | BRCA1 | Pathogenic | 17 | 41219691 | 41219692 | T | TGGCAAACTTGTAC | reviewed by expert panel | ClinGen:CA10589634 |
| Deletion | NM_007294.4(BRCA1):c.4860_4941del (p.Asp1621fs) | BRCA1 | Pathogenic | 17 | 41222990 | 41223071 | TGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA | T | reviewed by expert panel | ClinGen:CA10589635 |
| Deletion | NM_007294.4(BRCA1):c.4921del (p.Ala1641fs) | BRCA1 | Pathogenic | 17 | 41223010 | 41223010 | GC | G | reviewed by expert panel | ClinGen:CA10589636 |
| Deletion | NM_007294.4(BRCA1):c.4887_4893del (p.Glu1629_Glu1630insTer) | BRCA1 | Pathogenic | 17 | 41223038 | 41223044 | CACTTTCT | C | reviewed by expert panel | ClinGen:CA10589637 |
| Deletion | NM_007294.4(BRCA1):c.4891del (p.Ser1631fs) | BRCA1 | Pathogenic | 17 | 41223040 | 41223040 | CT | C | reviewed by expert panel | ClinGen:CA10589638 |
| Duplication | NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs) | BRCA1 | Pathogenic | 17 | 41223045 | 41223046 | T | TC | reviewed by expert panel | ClinGen:CA10589639 |
| Duplication | NM_007294.4(BRCA1):c.4878dup (p.Ala1627fs) | BRCA1 | Pathogenic | 17 | 41223052 | 41223053 | C | CA | reviewed by expert panel | ClinGen:CA10589640 |
| Deletion | NM_007294.4(BRCA1):c.4877del (p.Asn1626fs) | BRCA1 | Pathogenic | 17 | 41223054 | 41223054 | AT | A | reviewed by expert panel | ClinGen:CA10589641 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter) | BRCA1 | Pathogenic | 17 | 41223056 | 41223056 | A | T | reviewed by expert panel | ClinGen:CA10589642 |
| Deletion | NM_007294.4(BRCA1):c.4834del (p.Gln1612fs) | BRCA1 | Pathogenic | 17 | 41223097 | 41223097 | TG | T | reviewed by expert panel | ClinGen:CA10589643 |
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