ABCB1 A893T - 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:

ABCB1 A893T

(ABCB1 Ala893Thr)


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

  • None available.

Publications
 

Kroetz DL, Yee SW, Giacomini KM. The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. Clin Pharmacol Ther. 2010 Jan;87(1):109-16. Epub 2009 Nov 25. Review. PubMed PMID: 19940846; PubMed Central PMCID: PMC2923224.

 

Genomes
 

Other external references
 

    PharmGKB
  • [calcein]
    Decreased intracellular calcein levels (increased function) in transfected cells
    www.ncbi.nlm.nih.gov/pubmed/19940846

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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