SCARB1 G2S - GET-Evidence

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

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Curation:
Currentness:

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SCARB1 G2S

(SCARB1 Gly2Ser)


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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr12:125348263: 8.1% (816/10032) in EVS
  • Frequency shown in summary reports: 8.1% (816/10032)

Publications
 

Genomes
 

Other external references
 

    PharmGKB
  • [fenofibrate]
    This variant was significantly associated with postfenofibrate change for triglycerides. Subjects bearing minor allele A tend to have higher responsiveness to fenofibrate in lowering TG. A total of 1,327 subjects (639 men and 688 women) from 148 families were genotyped. Of these 1,327 subjects, 861 subjects (427 men and 434 women) went through the fenofibrate trial and had complete lipid phenotype and genotype data.
    www.ncbi.nlm.nih.gov/pubmed/18542840
    PolyPhen-2
  • Score: 0.937 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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