UGT2B15 Y85D - GET-Evidence

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

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Curation:
Currentness:

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UGT2B15 Y85D

(UGT2B15 Tyr85Asp)


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Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr4:69536084: 50.8% (5458/10746) in EVS
  • C @ chr4:69218678: 50.0% (40/80) in GET-Evidence
  • Frequency shown in summary reports: 50.8% (5458/10746)

Publications
 

Chung JY, Cho JY, Yu KS, Kim JR, Jung HR, Lim KS, Jang IJ, Shin SG. Effect of the UGT2B15 genotype on the pharmacokinetics, pharmacodynamics, and drug interactions of intravenous lorazepam in healthy volunteers. Clin Pharmacol Ther. 2005 Jun;77(6):486-94. PubMed PMID: 15961980.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr4:69536084

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr4:69536084

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr4:69536084

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr4:69218679

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr4:69218679

 

Added in this revision:

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr4:69218679

 

Other external references
 

    dbSNP
  • rs1902023
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [lorazepam]
    N=24 Korean; PK: UGT2B15*2/*2 group vs UGT215*1/*1 showed 0.58 lower systemic clearance of lorazepam; p less than 0.001
    www.ncbi.nlm.nih.gov/pubmed/15961980

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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