CYP2D6 H94R - 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!



(CYP2D6 His94Arg)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs28371704
    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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Molecular analysis of mechanisms leading to CYP2D6 ... Analysis of CYP2D6 mRNA in human liver and transfected ... of CYP2D6 apoprotein content by Western blot . 72. CYP2D6 expression in ...
  • 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 ...
  • 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, ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in