CXCR1 R335C - 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:

CXCR1 R335C

(CXCR1 Arg335Cys)


Short summary

Has a role in pathogenesis of the Chronic obstructive pulmonary disease (COPD) and asthma.

Variant evidence
Computational -
Functional -
Case/Control 2

See Stemmler S et al. 2005 (15772681).

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

  • A @ chr2:219028932: 2.2% (236/10758) in EVS
  • A @ chr2:218737176: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (236/10758)

Publications
 

Stemmler S, Arinir U, Klein W, Rohde G, Hoffjan S, Wirkus N, Reinitz-Rademacher K, Bufe A, Schultze-Werninghaus G, Epplen JT. Association of interleukin-8 receptor alpha polymorphisms with chronic obstructive pulmonary disease and asthma. Genes Immun. 2005 May;6(3):225-30. PubMed PMID: 15772681.

 

Genomes
 

Other external references
 

    dbSNP
  • rs16858808
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in