SLC22A16 H49R - GET-Evidence

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

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Curation:
Currentness:

SLC22A16 H49R

(SLC22A16 His49Arg)


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 @ chr6:110778128: 27.1% (2914/10758) in EVS
  • C @ chr6:110884820: 36.7% (47/128) in GET-Evidence
  • Frequency shown in summary reports: 27.1% (2914/10758)

Publications
 

Lal S, Wong ZW, Jada SR, Xiang X, Chen Shu X, Ang PC, Figg WD, Lee EJ, Chowbay B. Novel SLC22A16 polymorphisms and influence on doxorubicin pharmacokinetics in Asian breast cancer patients. Pharmacogenomics. 2007 Jun;8(6):567-75. PubMed PMID: 17559346.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr6:110778128

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr6:110778128

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr6:110778128

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr6:110778128

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr6:110778128

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr6:110778128

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr6:110778128

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr6:110778128

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr6:110778128

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr6:110778128

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr6:110778128

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr6:110778128

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr6:110778128

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr6:110778128

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr6:110884821

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr6:110884821

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr6:110884821

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr6:110884821

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr6:110884821

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr6:110884821

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr6:110884821

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr6:110884821

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr6:110884821

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr6:110884821

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr6:110884821

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr6:110884821

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr6:110884821

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr6:110884821

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr6:110884821

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr6:110884821

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr6:110884821

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr6:110884821

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr6:110884821

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr6:110884821

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr6:110884821

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr6:110884821

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr6:110884821

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr6:110884821

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr6:110884821

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr6:110884821

 

NA12878

 

Other external references
 

    dbSNP
  • rs714368
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Breast Neoplasms]
    [doxorubicin]
    Risk or phenotype-associated allele: G. Phenotype: The variant 146GG genotype was associated with increased exposure to doxorubicin and its active metabolite doxorubicinol. Study size: 62. Study population/ethnicity: Patients with Breast Neoplasms receiving adjuvant doxorubicin; Asian; Singapore. Type of association: PK.
    www.ncbi.nlm.nih.gov/pubmed/17559346
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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