CYP2D6 L91M - GET-Evidence

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

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(CYP2D6 Leu91Met)

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

  • T @ chr22:42525821: 5.3% (555/10518) in EVS
  • T @ chr22:40855764: 11.0% (13/118) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (555/10518)


Gemignani F, Landi S, Szeszenia-Dabrowska N, Zaridze D, Lissowska J, Rudnai P, Fabianova E, Mates D, Foretova L, Janout V, Bencko V, Gaborieau V, Gioia-Patricola L, Bellini I, Barale R, Canzian F, Hall J, Boffetta P, Hung RJ, Brennan P. Development of lung cancer before the age of 50: the role of xenobiotic metabolizing genes. Carcinogenesis. 2007 Jun;28(6):1287-93. Epub 2007 Jan 27. PubMed PMID: 17259654.



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr22:42525821


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr22:42525821


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr22:42525821


hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het T @ chr22:42525821


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr22:42525821


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr22:42525821


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr22:42525821


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr22:42525821


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr22:42525821


GS10851 - var-GS10851-1100-36-ASM
het T @ chr22:40855765


GS19649 - var-GS19649-1100-36-ASM
het T @ chr22:40855765


GS19669 - var-GS19669-1100-36-ASM
het T @ chr22:40855765


GS20509 - var-GS20509-1100-36-ASM
het T @ chr22:40855765


Other external references

  • rs28371703
    Web search results (23 hits -- see all)
  • CYP2D6
    AY545216 represents CYP2D6*1 without sequencing errors; positions after 600 in ... L91M. Wright et al., accepted. CYP2D6*75. CYP2D6.75. 4045G>A. R441H. Qin et ...
  • 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 ...
  • Carcinogenesis -- Gemignani et al. 28 (6): 1287 Table BL2
    8. 10. 0.96 (0.35–2.63) 0.80. CYP2D6: L91M–974C>A. rs4987138. 130. 161. 48 ... CYP2D6: S486T–4180G>C. rs2103556. 57. 67. 55. 61. 1.08 (0.61–1.91) 55. 63. 1.07 ...
  • Farmacogenomics
    CYP2D6 deleted. CYP2D6D. CYP2D6 deleted. CYP2D6*5. None. None. P34S; L91M; ... CYP2D6 zet codeïne om in het actieve. morfine. 4-10% van de caucasische ...
  • Development of lung cancer before the age of 50: the role of ...
    CYP2D6, CYP2E1 and EPHX1), we grouped subjects according to their pos ... Haplotype CYP2D6 5 corresponds to the deletion of the locus, i.e. a complete ...
  • 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, ...
  • Arrays of nucleic acid probes for analyzing biotransformation ...
    The invention provides arrays of immobilized probes, and methods employing the arrays, ... Abstract: A Method for Genotyping CYP2D6 and CYP2C19 Genotyping Using Oligonucleptide ...

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

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Gene search

"GENE" or "GENE A123C":

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