OAS3 R844X - GET-Evidence

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

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Curation:
Currentness:

OAS3 R844X

(OAS3 Arg844Stop)


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

  • T @ chr12:113403675: 1.3% (128/10104) in EVS
  • T @ chr12:111888057: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (128/10104)

Publications
 

Genomes
 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr12:113403675

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr12:111888058

 

Other external references
 

    dbSNP
  • rs61942233
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • The large form of human 2',5'-Oligoadenylate Synthetase (OAS3 ...
    ... OAS3, or the genetic variant OAS3-R844X which is predicted to lack about 20% of the OAS3 protein from the carboxy terminus. HeLa cells respond ...
    www.ncbi.nlm.nih.gov/pubmed/19056102
  • BioPortfolio - OAS3
    OAS3 - BioPortfolio ... inducible human epithelial HeLa cell lines expressing either the large form of human OAS, OAS3, or the genetic variant OAS3-R844X which is ...
    www.bioportfolio.com/search/OAS3.html
  • Chikungunya RSS Page 4
    Chikungunya RSS Page 4 ... HeLa cell lines expressing either the large form of human OAS, OAS3, or the genetic variant OAS3-R844X which is predicted ...
    medworm.com/rss/search.php?qu=Chikungunya+CHIKV&...&page=4
  • Antivirals - Research from A.C. Brehin and co-researchers in ...
    NewsRx is the leading source of news and information on Antivirals ... OAS3, or the genetic variant OAS3-R844X which is predicted to lack about 20% of the OAS3 protein from the ...
    www.newsrx.com/article.php?articleID=1473728

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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