FMO2 S195L - 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!

Curation:
Currentness:

(See the latest version)

FMO2 S195L

(FMO2 Ser195Leu)


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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

  • T @ chr1:171168584: 38.4% (4136/10758) in EVS
  • TG @ chr1:169435207: 42.2% (54/128) in GET-Evidence
  • Frequency shown in summary reports: 38.4% (4136/10758)

Publications
 

Genomes
 

 

 

NA12878

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

snp-1

 

snp-18

 

snp-26

 

Deleted in this revision:

snp-26

 

snp-28

 

snp-3

 

snp-32

 

Other external references
 

    dbSNP
  • rs2020862
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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