Top 15+ Chek2 C.1312g T hay nhất
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1.NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) AND Not Provided
1312G>T (p.Asp438Tyr). Gene: CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]; Variant type: single nucleotide variant; Cytogenetic ...
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2.ClinVar Genomic Variation As It Relates To Human Health - NCBI
Comment: The p.D438Y variant (also known as c.1312G>T), located in coding exon 11 of the CHEK2 gene, results from a G to T substitution at nucleotide position ...
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3.PALB2, CHEK2 And ATM Rare Variants And Cancer Risk
Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% ...
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4.Identification Of Deleterious Germline CHEK2 Mutations And Their ...
3 thg 5, 2019 · Germline mutations in checkpoint kinase 2 (CHEK2), ... populations,17 and the Ashkenazi Jewish founder missense mutation c.1283C>T (p. Introduction · Methods · Results · Discussion
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5.[PDF] Classifying Variants In The CHEK2 Gene - Ambry Genetics
Classifying Variants in the CHEK2 Gene: The Importance of. Collaboration ... Mutations in CHEK2 have been linked to an increased ... c.1312G>T p.D438Y.
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6.List Of Variants In Gene CHEK2 Reported By GeneKor MSA
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter), rs371418985. NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe), rs137853011. NM_007194.4(CHEK2):c.1312G>T (p.
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7.List Of Variants In Gene CHEK2 Reported As Uncertain Significance By ...
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr), rs200050883, 0.00034. NM_007194.4(CHEK2):c.1604G>A (p.Arg535His), rs544216926, 0.00027.
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8.[PDF] PALB2, CHEK2 And ATM Rare Variants And Cancer Risk - CORE
1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), ...
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9.CHEK2 Variants Associate With Hereditary Prostate Cancer - Nature
470T>C. I157T. Exon 3. FHAa. 1100delC. Frameshift. Exon 10. Kinase. 1312G>T. D438Y. Exon 11. Kinase. aFHA ¼ forkhead-associated domain.
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10.[PDF] Germline Testing In A Cohort Of Patients At High Risk Of Hereditary ...
21 thg 7, 2022 · c.1312G>T. (p.Asp438Tyr). CHEK2 rs200050883 missense. 0.039. VUS. [66–68]. Breast cancer. 12. 465/21 chr11:g.108142010A>G c.2954A>G.
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11.[PDF] Germline Mutational Spectrum In Armenian Breast Cancer Patients ...
24 thg 12, 2020 · BRCA1 (17), BRCA2 (19), CHEK2 (4), PALB2 (2), and NBN (1). ... c.1312G>T p.Asp438Tyr. PD. −0.17. D. 0. D. 0.965. D. 27. CHEK2 c.480A>G.
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12.Using Co-segregation And Loss Of Heterozygosity Analysis To Define ...
28 thg 8, 2020 · In addition to the pathogenic germline variant in the MRE11A gene, this patient also had a VUS in the CHEK2 c.1312G>T gene. Southey et al.
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13.Functional Analysis Identifies Damaging CHEK2 Missense Variants ...
15 thg 2, 2022 · Finally, a damaging VUS in CHEK2, c.486A>G/p. ... T387 within the T-loop region (residues 366–406; ref. 18), and on p. ... c.1312G>T, p.
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14.[PDF] PALB2, CHEK2 And ATM Rare Variants And Cancer Risk
30 thg 12, 2016 · CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of ...
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15.Genetic And Epigenetic Analyses Guided By High Resolution Whole ...
25 thg 9, 2018 · Leu939Trp) of PALB2 and c.1312G>T (p.Asp438Tyr) of CHEK2] were predicted to be damaging or probably damaging by SIFT and PolyPhen-2.
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