UGT2B7 Y268H - 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:

(See the latest version)

UGT2B7 Y268H

(UGT2B7 Tyr268His)


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

  • C @ chr4:69964338: 20.7% (2230/10756) in EVS
  • TC @ chr4:69998925: 58.5% (69/118) in GET-Evidence
  • Frequency shown in summary reports: 20.7% (2230/10756)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA18555

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

Added in this revision:

snp-3

 

Other external references
 

    PharmGKB
  • [codeine]
    Risk or phenotype-associated allele(s): T/T. Phenotype: Breastfed infants of mothers who are CYP2D6 UMs combined with the UGT2B7*2/*2 are at increased risk of potentially life-threatening CNS depression Study size: 72 mother-child pairs.
    www.ncbi.nlm.nih.gov/pubmed/18719619

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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