CHRNA3 R37H - GET-Evidence

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

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Curation:
Currentness:

CHRNA3 R37H

(CHRNA3 Arg37His)


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 @ chr15:78911230: 3.6% (389/10758) in EVS
  • T @ chr15:76698284: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (389/10758)

Publications
 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr15:78911230

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr15:78911230

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr15:76698285

 

Other external references
 

    dbSNP
  • rs8192475
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (13 hits -- see all)
  • CHRNA3 Gene - GeneCards | ACHA3 Protein | ACHA3 Antibody
    summary for CHRNA3: Nicotinic receptors (nAChRs) are ligand-gated ion channels that ... CHRNA3 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA3
  • Pharmacogenetic markers for cholinergic effects on nicotine ...
    Two further SNPs located in CHRNA3 and CHRNB4 appear to have independent associations with SQ. ... strong association between rs8192475 (R37H) in CHRNA3, higher craving after ...
    www.ashg.org/2009meeting/abstracts/fulltext/f21584.htm
  • Neuronal acetylcholine receptor subunit alpha-3 precursor ...
    Genetic variations in CHRNA3 may be associated with susceptibility to lung ... Genetic variations in CHRNA3 may be associated with susceptibility to peripheral ...
    www.uniprot.org/uniprot/P32297
  • (WO/2005/014863) MUTATIONS IN ION CHANNELS
    CHRNA3 Exon 4 c345G-tA CHRNA2 Intron 3 IVS3-16C-+T CHRNA3 Intron 3 IVS3-5T-+C CHRNA3 ... A125T CHRNA3 R37H KCNQ2 K69fsX119 KCNQ2 M1V KCNQ2 MIT KCNQ2 R353G ...
    www.wipo.int/pctdb/en/wo.jsp?IA=WO2005014863&DISPLAY=DESC
  • Mutations in Ion Channels - Patent application - method of ...
    ... R1319Q CHRNA5 V134I CHRNA2 A125T CHRNA3 R37H KCNQ2 K69fsX119 KCNQ2 M1V KCNQ2 M1T ... V134I CHRNA2 A125T CHRNA3 R37H KCNQ2 K69fsX119 KCNQ2 M1V KCNQ2 M1T KCNQ2 R353G ...
    www.faqs.org/patents/app/20090081724
  • Ernest Gallo Clinic and Research Center
    RS8192475. SHAS. 336. g/a. 0.39. 0.039. 0.6. 0.05. RS950776. SHAS. 336. t/c. 0.25 ... Final note - CHRNA5 (and CHRNA3 and CHRNB4) are. part of the nicotinic ...
    www.conferenzadroga.it/media/67624/white.pdf
  • Table S2. Single Nucleotide Polymorphism discovery by genomic ...
    CHRNA3: Chr 15. 76674415 flank A C 0.01 <0.01 - rs55919839. 76674493 ... 0.59 rs8192475 + 76700428. flank. VNTR. 4. rs55787222. CHRNB4: Chr 15. 76703677. flank. G. C. 19 ...
    plosgenetics.org/article/...
  • Table S2.
    CHRNA3. 76696535. 0.8804. 0.7434. 1.043. T. 0.1397. T. 0.017971. 0.016505211. RS8192475. CHRNA3 ... CHRNA3. 76698835. 0.8924. 0.7535. 1.057. C. 0.187. C. 0.005282. 0.006644143. RS6495309. CHRNA3, ...
    plosgenetics.org/article/...
  • SNP Analysis from UTSW
    rs8192475. 100. H/R. 91.6. 69.6969696969697. 131.426086956522. Alignment. Human. NM_000743 ... rs8192475. 100. H/R. 91.6. 440. 297. T. C. C. C. 58. H/R. 91.6. 441. 298. C. C. C. C ...
    lyle.smu.edu/cse/snapper/snapper/cgi-bin/...?qid=8980295139
  • GENETIC POLYMORPHISMS AND SUBSTANCE DEPENDENCE - Patent ...
    ... presence of polymorphism in the CHRNA5-CHRNA3-CHRNB4 gene cluster and the CHRNA4 gene. ... at least one polymorphism in the CHRNA5-CHRNA3-CHRNB4 gene cluster and the CHRNA4 gene, ...
    www.faqs.org/patents/app/20090176878

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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