CYP1A1 I462V - 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.

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Curation:
Currentness:

CYP1A1 I462V

(CYP1A1 Ile462Val)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr15:75012985: 2.7% (290/10758) in EVS
  • C @ chr15:72800037: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (290/10758)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr15:75012985

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr15:75012985

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr15:75012985

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr15:72800038

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr15:72800038

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr15:72800038

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr15:72800038

 

NA12878

 

Other external references
 

    dbSNP
  • rs1048943
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Mouth Neoplasms]
    Homozygotes associated with development of oral cancer, no association for ovarian cancer.
    www.ncbi.nlm.nih.gov/pubmed/17372243; PubMed ID:17461521
    PolyPhen-2
  • Score: 0.488 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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