F5 K858R - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

F5 K858R

(F5 Lys858Arg)


You are viewing an old version of this page that was saved on May 19, 2010 at 6:28pm by Genome Importing Robot.

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

  • C @ chr1:169511755: 24.4% (2624/10758) in EVS
  • C @ chr1:167778378: 30.5% (39/128) in GET-Evidence
  • Frequency shown in summary reports: 24.4% (2624/10758)

Publications
 

Genomes
 

Added in this revision:

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:169511755

 

NA07022

 

NA12156

 

NA12878

 

NA18956

 

NA19129

 

snp-1

 

snp-26

 

snp-31

 

Other external references
 

    dbSNP
  • rs4524
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the F5 gene
    Budd-Chiari Syndrome
    Factor V Cambridge Thrombophilia
    Factor V Deficiency
    Factor V Leiden Thrombophilia
    Factor V R2 Mutation Thrombophilia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F5
    Web search results (5 hits -- see all)
  • AceView: Gene:F5, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=F5
  • telnet.23_sithqx
    <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http: ... 6!N33)N*!V#Q64m`ET#E4A,hX%F5+N58VUfDGGkp-QNY&quot;'-EFB(8H1'()Z!!&quot;`NK ...
    iubio.bio.indiana.edu/.../util/mac/telnet/telnet.23_sithqx
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    ... h9%9B9%e69d3&quot;!+$K,L@Ji6&quot;b!*!'8Cd!N!B TQ`!!D6m!N!ENL`dD#+Pc&quot;J560 ... 5 jbL'6!N33)N*!V#Q64m`ET#E4A,hX%F5+N58VUfDGGkp-QNY&quot;'-EFB(8H1'()Z! ...
    iubio.bio.indiana.edu/soft/util/mac/telnet/...
  • Thrombosis in Postmenopausal Women Association of Genetic ...
    Factor V (F5) Lower half. 71.3.‡ 5. 7. 91.7 .24 .39. Upper half. 71.3.‡ 9. 10 ... K858R. 27.0. 0.74 (0.60-0.90) .003 .14. 8.7 0.75 (0.58-0.97) 0.52 (0.30 ...
    jama.ama-assn.org/cgi/reprint/297/5/489.pdf
  • Table 1 Text
    ... 213 rs4524 F5 2153 1 166243413 NM_000130 NP_000121 A/G K858R minus 3195262 738 ... 216 rs4524 F5 2153 1 166243413 NM_000130 NP_000121 A/G K858R minus 12674294 1303 ...
    icr.ac.uk/research/research_sections/.../2841.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in