FUT2 W154X - 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.

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Curation:
Currentness:

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FUT2 W154X

(FUT2 Trp154Stop)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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

  • A @ chr19:49206674: 49.1% (5277/10758) in EVS
  • A @ chr19:53898485: 42.2% (54/128) in GET-Evidence
  • Frequency shown in summary reports: 49.1% (5277/10758)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA19129

 

NA19240

 

Added in this revision:

snp-5

 

Other external references
 

    PharmGKB
  • [cyanocobalamin]
    Results from in vitro expression assays indicate that this polymorphism, which creates the translation termination codon, inactivates this allele. Approximately 20% of randomly-selected individuals were found to be homozygous for this enzyme-inactivating nonsense allele, in correspondence to the frequency of the non-secretor phenotype in most human populations.
    www.ncbi.nlm.nih.gov/pubmed/7876235

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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