FGA T312A - GET-Evidence

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

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Curation:
Currentness:

FGA T312A

(FGA Thr312Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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
 

    Web search results (8 hits -- see all)
  • The metabolic syndrome is a complex disease which is characteri
    AGTR1/A1166C, ACE/ID and FGA/T312A in its development. Arsen Batagov ... the 3`-UTR and fibrinogen chain alpha (FGA) – an SNP leading. to a single aminoacid ...
    www.icsb-2007.org/proceedings/abstracts/I32.pdf
  • ICSB 2007 :: Posters by Author
    A systems analysis of metabolic syndrome in human and the role of gene polymorphisms AGTR1/A1166C, ACE/ID and FGA/T312A in its development ...
    www.icsb-2007.org/posters/byAuthor.html
  • Blood -- High prevalence of dysfibrinogenemia among patients ...
    Exons contained within the fibrinogen genes FGA, FGB, and FGG (encoding the A, B ... In addition to the T312A polymorphism, DNA sequence analysis disclosed a ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1929
  • OMIM: 134820
    The R16C mutation of the FGA gene is a common cause of dysfibrinogenemia and is ... in the FGA gene, resulting in a thr312-to-ala (T312A) substitution, and the development ...
    www.genome.jp/dbget-bin/www_bget?omim+134820
  • Blood -- High prevalence of dysfibrinogenemia among patients ...
    Email this article to a friend. Alert me to new issues of the journal ... disclosed the common heterozygous Aα T312A polymorphism (not shown) and a second ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../DC1
  • [全文转载]都市科幻《双脑》作者:理想年代 @ 『 E书天下 』
    电子E书推荐、欣赏、下载、点评. 雷傲极酷超级论坛 『 E书天下 』 [返回] 浏览:[全文转载]都市科幻《双脑》作者 ... 标记论坛所有内容为已读. 目前论坛总在线 314 人,本主题共有 1 人浏览。 其中注册用户 0 人,访客 1 人。 [ 关闭详细列表] 此帖被阅读 6496 次 ...
    bbs.leobbs.com/cgi-bin/topic-121-2787-24-0-.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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