F5 H1299R - GET-Evidence

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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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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
    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 ...
  • 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.
  • 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 ...
  • ((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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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