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 November 29, 2012 at 7:09am 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
 

Added in this revision:

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom TC @ chr4:69964337

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het TC @ chr4:69964337

 

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

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het TC @ chr4:69964337

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het TC @ chr4:69964337

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het TC @ chr4:69964337

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het TC @ chr4:69964337

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom TC @ chr4:69964337

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het TC @ chr4:69964337

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het TC @ chr4:69964337

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het TC @ chr4:69964337

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het TC @ chr4:69964337

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het TC @ chr4:69964337

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het TC @ chr4:69964337

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom TC @ chr4:69964337

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het TC @ chr4:69964337

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het TC @ chr4:69964337

 

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

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het TC @ chr4:69964337

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom TC @ chr4:69964337

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom 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

 

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

 

GS19129 - var-GS19129-1100-36-ASM
hom TC @ chr4:69998926

 

GS19238 - var-GS19238-1100-36-ASM
hom TC @ chr4:69998926

 

GS19239 - var-GS19239-1100-36-ASM
hom TC @ chr4:69998926

 

GS19240 - var-GS19240-1100-36-ASM
hom TC @ chr4:69998926

 

GS19648 - var-GS19648-1100-36-ASM
het TC @ chr4:69998926

 

GS19649 - var-GS19649-1100-36-ASM
het TC @ chr4:69998926

 

GS19700 - var-GS19700-1100-36-ASM
hom TC @ chr4:69998926

 

GS19701 - var-GS19701-1100-36-ASM
het TC @ chr4:69998926

 

GS19704 - var-GS19704-1100-36-ASM
hom TC @ chr4:69998926

 

GS19735 - var-GS19735-1100-36-ASM
het TC @ chr4:69998926

 

GS20502 - var-GS20502-1100-36-ASM
het TC @ chr4:69998926

 

GS20509 - var-GS20509-1100-36-ASM
het TC @ chr4:69998926

 

GS21767 - var-GS21767-1100-36-ASM
hom TC @ chr4:69998926

 

NA19240

 

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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