NAT2 R197Q - 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:

NAT2 R197Q

(NAT2 Arg197Gln)


Short summary

This allele characterizes the NAT2*6A haplotype which causes slow acetylation.

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr8:18258103: 28.2% (3031/10758) in EVS
  • A @ chr8:18302382: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 28.2% (3031/10758)

Publications
 

Olivera M, Martínez C, Gervasini G, Carrillo JA, Ramos S, Benítez J, García-Martin E, Agúndez JA. Effect of common NAT2 variant alleles in the acetylation of the major clonazepam metabolite, 7-aminoclonazepam. Drug Metab Lett. 2007 Jan;1(1):3-5. PubMed PMID: 19356010.

 

Genomes
 

 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr8:18258103

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr8:18258103

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr8:18258103

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr8:18258103

 

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr8:18302383

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr8:18302383

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr8:18302383

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr8:18302383

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr8:18302383

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr8:18302383

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr8:18302383

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr8:18302383

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr8:18302383

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:18302383

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr8:18302383

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr8:18302383

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr8:18302383

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr8:18302383

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr8:18302383

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr8:18302383

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr8:18302383

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr8:18302383

 

NA12878

 

Other external references
 

    dbSNP
  • rs1799930
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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