Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter) | BRCA1 | Pathogenic | 17 | 41244208 | 41244208 | C | A | reviewed by expert panel | ClinGen:CA002163 |
| Deletion | NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) | BRCA1 | Pathogenic | 17 | 41244203 | 41244206 | CTTCT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3461&base_change=del AGAA,ClinGen:CA002164 |
| Deletion | NM_007294.4(BRCA1):c.3343del (p.Glu1115fs) | BRCA1 | Pathogenic | 17 | 41244205 | 41244205 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3462&base_change=del G,ClinGen:CA002165 |
| Deletion | NM_007294.4(BRCA1):c.3354_3355del (p.Gln1118fs) | BRCA1 | Pathogenic | 17 | 41244193 | 41244194 | GTC | G | reviewed by expert panel | ClinGen:CA002174 |
| Deletion | NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs) | BRCA1 | Pathogenic | 17 | 41244188 | 41244189 | TAA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3478&base_change=del TT,ClinGen:CA002180 |
| Deletion | NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs) | BRCA1 | Pathogenic | 17 | 41244185 | 41244189 | TATTAA | T | reviewed by expert panel | ClinGen:CA002181 |
| Deletion | NM_007294.4(BRCA1):c.3362del (p.Asn1121fs) | BRCA1 | Pathogenic | 17 | 41244186 | 41244186 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3481&base_change=del A,ClinGen:CA002183 |
| Deletion | NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs) | BRCA1 | Pathogenic | 17 | 41244182 | 41244183 | CTG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3484&base_change=del CA,ClinGen:CA002184 |
| Deletion | NM_007294.4(BRCA1):c.3377del (p.Pro1126fs) | BRCA1 | Pathogenic | 17 | 41244171 | 41244171 | TG | T | reviewed by expert panel | ClinGen:CA002189 |
| Deletion | NM_007294.4(BRCA1):c.3390del (p.Asp1131fs) | BRCA1 | Pathogenic | 17 | 41244158 | 41244158 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3509&base_change=del A,ClinGen:CA002192 |
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