CYP2D6 H94R - GET-Evidence

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

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Curation:
Currentness:

CYP2D6 H94R

(CYP2D6 His94Arg)


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

  • C @ chr22:42525811: 8.3% (879/10618) in EVS
  • C @ chr22:40855754: 11.2% (13/116) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (879/10618)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr22:42525811

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr22:42525811

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr22:42525811

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr22:42525811

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het C @ chr22:42525811

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr22:42525811

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr22:42525811

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr22:42525811

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr22:42525811

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr22:42525811

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr22:40855755

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr22:40855755

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr22:40855755

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr22:40855755

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr22:40855755

 

Other external references
 

    dbSNP
  • rs28371704
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (23 hits -- see all)
  • CYP2D6
    AY545216 represents CYP2D6*1 without sequencing errors; positions ... CYP2D6*1E. CYP2D6.1. 1869T>C. Sachse et al., 1997. CYP2D6*1XN. CYP2D6.1. 42. N active. genes. Incr ...
    www.cypalleles.ki.se/cyp2d6.htm
  • Cytochrome P450 2D6 - Homo sapiens (Human)
    The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely ... Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 ...
    www.uniprot.org/uniprot/P10635
  • Table 2
    rs6413432 (CYP2E1) rs28371704 (CYP2D6) rs7439366 (UGT2B7) CYP1A2_m730C_T NAT1GID97 ... For sequence information, refer to the column in Additional file 1 titled "Unique name in ...
    www.biomedcentral.com/1755-8794/1/24/table/T2
  • Farmacogenomics
    CYP2D6 deleted. CYP2D6D. CYP2D6 deleted. CYP2D6*5. None. None. P34S; L91M; H94R; Splicing ... None. CYP2D6*1A. In_vitro. In_vivo. Enzyme activity. Effect. Trivial. name ...
    www.cri.be/pdfolder/bMK040130.pdf
  • Download file
    CYP2D6. rs28371704. DME 2. Failed. rs28371704. 983A>G, H94R. 211. 442.1 ... CYP2D6. rs769258. SNaPshot. rs769258. 31G>A. 221. 437. CYP2D6. rs5030862. SNaPshot. gacctgatgc ...
    biomedcentral.com/content/supplementary/...
  • Reference SNP(refSNP) Cluster Report: rs28371704
    NP_000097.2:p.His94Arg. NP_001020332.1:p.His94Arg. NT_011520.12:g. ... was used to instantiate sequence for rs28371704 during BLAST analysis for the current ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=28371704
  • Pharmacogenomics: An Holistic Approach to Drug - Organism ...
    CYP2D6: Consequences of genotype for systemic drug exposure ... The Impact of CYP2D6 Genotype on Adverse Drug Reaction. and Nonresponse During Treatment ...
    www.febssysbio.net/conf/eichelbaum.pdf
  • Molecular analysis of mechanisms leading to CYP2D6 ...
    2.2.1.16.3 Analysis of CYP2D6 mRNA in human liver and transfected ... of CYP2D6 apoprotein content by Western blot . 72. 3.3.1.2. CYP2D6 expression in ...
    elib.uni-stuttgart.de/opus/volltexte/2006/2609/pdf/...
  • Susceptibilités génétiques et expositions professionnelles
    par les gènes GSTM1, GSTT1, NAT2 ou CYP2D6 dans le mécanisme d'action ... le CYP2D6 diffèrent selon. que l'on considère le phénotype CYP2D6 EM ...
    lesrapports.ladocumentationfrancaise.fr/BRP/.../0000.pdf
  • Enzymes du métabolisme des cancérogènes chimiques et ...
    CYP2D6*2, CYP2D6*4, CYP2D6*5) sont proches de 5 % dans les popula ... P34S, L91M, H94R, défaut d'épissage. CYP2D6*4I. C188T, C1062A, A1072G, C1085G, ...
    lara.inist.fr/bitstream/2332/1326/2/INSERM_SG_chap.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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