C.470t c p.ile157thr
WebHigh population frequency of c.470T > C (p. Ile157Thr) (8.6%) continues to question the variant's pathogenicity in particular populations. Other findings are concordant with previous reports from Latvia and neighbouring populations. Copyright © 2024 Elsevier Masson SAS. All rights reserved. Publication types MeSH terms WebClinVar archives and aggregates information about relationships among variation and human health.
C.470t c p.ile157thr
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WebMar 1, 2015 · One of them is the c.470 T > C (p.I157T, rs17879961) missense substitution in the CHEK2 gene. The aim of this study was to investigate whether this specific … WebMar 1, 2015 · Pyrosequencing profiles of the three genotypes of the c.470 T > C (p.I157T, rs17879961) CHEK2 missense substitution. Polymorphic site is marked in yellow. Full size image Our results indicate that the c.470C allele is almost twice as frequent in thyroid carcinoma patients than in controls.
Web11 rows · Dec 22, 2024 · This c.470T>C (p.Ile157Thr) variant in the CHEK2 gene has been reported to be associated with cancer susceptibility, including significant association with … Submitters for NM_007194.4(CHEK2):c.470T>C … WebName: NM_007194.4 (CHEK2):c.470T>C (p.Ile157Thr) RGD ID: 8558798. Condition: Breast and colorectal cancer, susceptibility to [RCV000210131] Breast and/or ovarian …
WebAug 12, 2024 · In addition to these pathogenic mutations, the low‐penetrance CHEK2 c.470T>C p.Ile157Thr (I157T) missense variant was detected in 6 patients, 2 of which … WebFor the c.470T>C(p.Ile157Thr) variant the risk for breast cancer appears to be lower. ** Breast cancer risks refer only to the c.657del5 variant. Table S2. Information for the 415 …
WebAug 1, 2024 · The majority of studies evaluating risk for cancer conferred by CHEK2 pathogenic variants have focused on the two common CHEK2 European founder …
WebTotal Cores 4. Total Threads 8. Max Turbo Frequency 3.70 GHz. Intel® Turbo Boost Technology 2.0 Frequency‡ 3.70 GHz. Processor Base Frequency 2.50 GHz. Cache 8 … scrolls flatscroll semi flush lightingWebNM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) AND Breast and colorectal cancer, susceptibility to Clinical significance: Likely pathogenic (Last evaluated: May 3, 2024) pc gamer best free antivirusWebThe most common germline mutation identified in our study was c.470T>C (p.Ile157Thr). ... [3/25; 12%] was the germline pathogenic mutation most frequently detected, especially … scrolls fantasyWebAug 12, 2024 · In addition to these pathogenic mutations, the low‐penetrance CHEK2 c.470T>C p.Ile157Thr (I157T) missense variant was detected in 6 patients, 2 of which were also BRCA1 carriers and 1 CHEK2 c.1100delC carrier. Table 1. Pathogenic mutations observed in the 95 patients undergoing gene‐panel testing pc gamer best graphics card dealsWebFor example, in the CHEK2 gene, truncating/frameshift mutations such as 1100delC confer a higher risk for breast cancer than do the common missense variants, such as … pc gamer best prime day dealsWeb3.70 GHz. Intel® Turbo Boost Technology 2.0 Frequency‡. 3.70 GHz. Processor Base Frequency. 2.50 GHz. Cache. 8 MB Intel® Smart Cache. Bus Speed. pc gamer blanca