ABCC1 R723Q - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ABCC1 R723Q

(ABCC1 Arg723Gln)


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

  • A @ chr16:16177275: 1.0% (103/10232) in EVS
  • A @ chr16:16084775: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (103/10232)

Publications
 

L├ętourneau IJ, Deeley RG, Cole SP. Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1). Pharmacogenet Genomics. 2005 Sep;15(9):647-57. PubMed PMID: 16041243.

 

Genomes
 

Other external references
 

    dbSNP
  • rs4148356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [methotrexate]
    system: membrane vessicles from HEK cells transfected with WT or variant; FA: variant had approx 50% decrease in transport of tritium labelled 17[beta]-estradiol-17[beta]-D-glucuronide and tritium labelled methotrexate
    www.ncbi.nlm.nih.gov/pubmed/16041243

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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