UGT2B7 Y268H - GET-Evidence

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

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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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Added in this revision:



Other external references

  • [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.

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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