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Panel-Ref? BRCA1/2 Germline Mutation Cocktail I
| Panel-Ref® BRCA1/2 Germline Mutation Cocktail I | ||||||
| Cat No. | CBP90003 | |||||
| Description | 主要包含BRCA1和BRCA2的SNV和indel，用于相關的試劑盒和Panel檢測服務的質控。 | |||||
| Gene | Clinical significance | Allele origin | mRNA | DNA Change | AA Change | %AF |
| BRCA1 | Benign? | germline | NM_007300.4 | c.4837A>G | p.S1613G | 50.00% |
| BRCA1 | Benign? | germline | NM_007300.4 | c.3548A>G | p.K1183R | 50.00% |
| BRCA1 | Benign? | germline | NM_007300.4 | c.2612C>T | p.P871L | 100.00% |
| BRCA1 | Benign? | germline | NM_007300.4 | c.2458A>G | p.K820E | 50.00% |
| BRCA1 | Benign | germline | NM_007300.4 | c.2082C>T | p.S694S | 50.00% |
| BRCA1 | Uncertain significance? | germline | NM_007300.4 | c.1303G>T | p.D435Y | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.865A>C | p.N289H | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.2229T>C | p.H743H | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.2971A>G | p.N991D | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.3516G>A | p.S1172S | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.3807T>C | p.V1269V | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.4563A>G | p.L1521L | 100.00% |
| BRCA2 | Pathogenic | germline | NM_000059.3 | c.5345delA | p.N1784fs | 50.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.6513G>C | p.V2171V | 100.00% |
| BRCA2 | Benign? | germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% |
| BRCA2 | Uncertain Significance | germline | NM_000059.3 | c.1365A>G | p.S455S | 50.00% |
| 定標方法：500x WES、DdPCR(部分位點) | ||||||
| Product Information | ||||||
| Intended Use | Research Use Only | |||||
| Unit Size | 1ug/vial * 1 vial | |||||
| Concentration | Download for COA | |||||
| Purity | Download for COA | |||||
| DNA electrophoresis | Download for COA | |||||
| Storage | -20°C | |||||
| Expiry | 36 months from the date of manufacture | |||||
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