F5 H1299R - 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:

F5 H1299R

(F5 His1299Arg)


You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

Added in this revision:

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

  • None available.

Publications
 

Genomes
 

Other external references
 

    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 (15 hits -- see all)
  • Coagulation factor V precursor - Homo sapiens (Human)
    Defects in F5 are the cause of thrombophilia due to activated protein ... "Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase ...
    www.uniprot.org/uniprot/P12259
  • WikiGenes - F5 - coagulation factor V (proaccelerin, labile...
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/2153.html
  • Blood -- Reduced thrombin generation increases host ...
    Transgenic and nontransgenic F5+/– and F5+/+ littermates were used in all experiments to ... AlbfvBTg+F5–/– mice express approximately 15% of the wild-type plasma ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1358
  • ((F2[TI]) OR (coagulation factor II[TI]) OR (prothrombin[TI ...
    ... of JAK2 (V617F) with inherited thrombophilic F5 and F2 mutations. ... H. The factor V G1691A, factor V H1299R, prothrombin G20210A polymorphisms in children with family history ...
    ncbi.nlm.nih.gov/pubmed?term=((F2[TI])+OR+...+720+days"[dp]
  • Blood -- Clinical and molecular characterization of 6 ...
    F5 analysis revealed 7 novel mutations (3 nonsense, 2 frameshift, and ... Sequencing of F5 identified a novel nonsense mutation and a previously reported ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../3210
  • PreRelease — LOINC
    DISCLAIMER: These codes are currently under development by the LOINC team, and are ... F5 gene.p.H1299R. Arb. Pt. Bld/Tiss. Ord. Molgen. 2010/03/09. ACE gene mutations tested for. Prid ...
    loinc.org/prerelease
  • American College of Medical Genetics
    Gene Symbol/Chromosome Locus: Factor V Leiden: F5; 1q23 ... Another variant, called the R2 allele (H1299R), appears to confer a modest additional ...
    www.acmg.net/Pages/ACMG_Activities/stds-2002/fv-pt.htm
  • Popis pretraga kod habitualnog pobačaja i IVF neuspjeha
    Popis pretraga kod habitualnog pobačaja i IVF neuspjeha 1. SE, KKS, urin, urinokultura, GUK, OGTT, markere hepatitisa, bilirubin, ALT, AST, GGT, LDH, ALP, urea, ...
    obitelj.forumotion.com/neplodnost-f5/...
  • Technical standards and guidelines: Venous thromboembolism ...
    F5. F2. Chromosome locus. 1q23. 11p11–q12. OMIM number. 227400. 176930 ... Another variant, called the R2 allele (H1299R), appears to. confer a modest additional ...
    www.acmg.net/resources/policies/FactorV-venous_thromb.pdf
  • Association for Molecular Pathology
    commonly tested include Factor V Leiden R506Q, Factor V Leiden R2 allele H1299R, ... results for both the F5/F2/MTHFR tests and the Warfarin Metabolism ...
    jmd.amjpathol.org/cgi/reprint/9/5/649.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in