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:

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UGT2B7 Y268H

(UGT2B7 Tyr268His)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr4:69964338: 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
 

Madadi P, Ross CJ, Hayden MR, Carleton BC, Gaedigk A, Leeder JS, Koren G. Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther. 2009 Jan;85(1):31-5. Epub 2008 Aug 20. PubMed PMID: 18719619.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het TC @ chr4:69964337

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het TC @ chr4:69964337

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom TC @ chr4:69964337

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het TC @ chr4:69964337

 

GS06985 - var-GS06985-1100-36-ASM
het TC @ chr4:69998926

 

GS07357 - var-GS07357-1100-36-ASM
het TC @ chr4:69998926

 

GS12004 - var-GS12004-1100-36-ASM
het TC @ chr4:69998926

 

GS18501 - var-GS18501-1100-36-ASM
hom TC @ chr4:69998926

 

GS18502 - var-GS18502-1100-36-ASM
hom TC @ chr4:69998926

 

GS18504 - var-GS18504-1100-36-ASM
hom TC @ chr4:69998926

 

GS18505 - var-GS18505-1100-36-ASM
hom TC @ chr4:69998926

 

GS18508 - var-GS18508-1100-36-ASM
het TC @ chr4:69998926

 

GS18517 - var-GS18517-1100-36-ASM
hom TC @ chr4:69998926

 

GS18526 - var-GS18526-1100-36-ASM
het TC @ chr4:69998926

 

GS18537 - var-GS18537-1100-36-ASM
het TC @ chr4:69998926

 

GS18555 - var-GS18555-1100-36-ASM
het TC @ chr4:69998926

 

GS18558 - var-GS18558-1100-36-ASM
het TC @ chr4:69998926

 

GS18940 - var-GS18940-1100-36-ASM
het TC @ chr4:69998926

 

GS18942 - var-GS18942-1100-36-ASM
hom TC @ chr4:69998926

 

GS18947 - var-GS18947-1100-36-ASM
hom TC @ chr4:69998926

 

GS19017 - var-GS19017-1100-36-ASM
hom TC @ chr4:69998926

 

GS19020 - var-GS19020-1100-36-ASM
het TC @ chr4:69998926

 

Added in this revision:

GS19025 - var-GS19025-1100-36-ASM
het TC @ chr4:69998926

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-3

 

Other external references
 

    dbSNP
  • rs7439366
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs7438284
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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