FGB R47X - GET-Evidence

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

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Curation:
Currentness:

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FGB R47X

(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 -
 

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
 

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.

 

Added in this revision:

Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, Mannucci PM, Tenchini ML. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. Blood. 2004 Apr 15;103(8):3051-4. Epub 2003 Dec 24. PubMed PMID: 15070683.

 

Genomes
 

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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