ADRB3 W64R - 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:

ADRB3 W64R

(ADRB3 Trp64Arg)


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

  • G @ chr8:37823798: 8.5% (909/10748) in EVS
  • G @ chr8:37942954: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 8.5% (909/10748)

Publications
 

Ujike H, Nomura A, Morita Y, Morio A, Okahisa Y, Kotaka T, Kodama M, Ishihara T, Kuroda S. Multiple genetic factors in olanzapine-induced weight gain in schizophrenia patients: a cohort study. J Clin Psychiatry. 2008 Sep;69(9):1416-22. PubMed PMID: 19193342.

 

Genomes
 

 

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:37942955

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr8:37942955

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr8:37942955

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr8:37942955

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr8:37942955

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr8:37942955

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr8:37942955

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr8:37942955

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr8:37942955

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr8:37942955

 

Other external references
 

    dbSNP
  • rs4994
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Weight gain]
    [olanzapine]
    Arg in position 64 associated with olanzapine-induced weight gain
    www.ncbi.nlm.nih.gov/pubmed/19193342
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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