FGB R47X - 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!


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(FGB Arg47Stop)

You are viewing an old version of this page that was saved on August 24, 2015 at 10:01pm by Madeleine Ball.

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.


Added in this revision:

Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. Haematologica. 2002 Aug;87(8):855-9. PubMed PMID: 12161363.



Other external references

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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