F2 T165M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

F2 T165M

(F2 Thr165Met)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:46745003: 9.4% (1007/10758) in EVS
  • T @ chr11:46701578: 11.3% (14/124) in GET-Evidence
  • Frequency shown in summary reports: 9.4% (1007/10758)

Publications
 

Genomes
 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr11:46745003

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr11:46745003

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr11:46745003

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr11:46745003

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr11:46745003

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr11:46745003

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr11:46745003

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr11:46745003

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr11:46745003

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr11:46745003

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr11:46701579

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr11:46701579

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr11:46701579

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr11:46701579

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr11:46701579

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr11:46701579

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr11:46701579

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr11:46701579

 

Other external references
 

    dbSNP
  • rs5896
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.346 (possibly damaging)
    Web search results (6 hits -- see all)
  • Table 3 Text
    ... 11p11-q12 coagulation factor II (thrombin) 160 rs5896 F2 2147 11 ... coagulation factor II (thrombin) 161 rs5896 F2 2147 11 46701579 NM_000506 NP_000497 C/T T165M plus 4384736 ...
    icr.ac.uk/research/research_sections/.../2842.txt
  • MOLECULAR MARKER TECHNIQUES FOR CROP IMPROVEMENT Part II Genetic ...
    c) Markers from an F2 population: dominant. χ. χ. 5.2 LOD scores. χ. χ. R. ... T165m T170m T183m S67m S75m S78m S85m S105m T66p T67p T73p T171p T187p T202p ...
    www.kirkhousetrust.org/Docs/2005workshop.pdf
  • Thrombosis in Postmenopausal Women Association of Genetic ...
    Factor II (F2)† 92.2. 8. 8. 94.8 .20 .39. Factor V (F5) Lower half. 71.3.‡ 5. 7. 91.7 .24 .39 ... (T165M) 7530. 21239. rs1799963 (20210) Cases (n = 348) Controls (n ...
    jama.ama-assn.org/cgi/reprint/297/5/489.pdf
  • 연세 생활과학대학
    ... 고영국, 박현영, 이종호, 장양수(2005), Prothrombin T165M과 Factor V R485K 유전자다형성과 ... of insulin sensitivity and reduction of plasma homocysteine and F2-isoprostane. ...
    che.yonsei.ac.kr/department/food/prof_ljh.php
  • 伺服放大器维修工控主板维修工控电脑板维修伺服驱动器维修电脑板维修伺服控制器维修变频器维修制动单元维修plc维修电路维修 ...
    三明电子维修各类工控电子产品(关键词): 三菱PLC,三菱变频器,三垦变频器,三菱扩展,三菱低压电器,三菱断路器,三菱空气开关,三菱磁粉制动器,三菱磁滞制动器,三菱磁粉离合器, ... E39-F10 E39-F11 E39-F1-31 E39-F1-33 E39-F1V E39-F2. E39-F2-32 E39-F3. ...
    www.3mdz.com/产品维修大全.asp
  • coralai
    <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http: ... _AME_?F/?3QJI`&gt;7CJ9_&lt;&gt;T#AS=7&lt;!U,M1@Z.3GU3TY/ M_=/3TP._`A_/R\69&amp; ...
    ftp.cs.wisc.edu/coral/coral1.2/coral.1.2.split/coralai

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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