CPOX N272H - 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:

CPOX N272H

(CPOX Asn272His)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr3:98307696: 24.1% (2598/10758) in EVS
  • G @ chr3:99790385: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 24.1% (2598/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr3:98307696

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr3:99790386

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr3:99790386

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr3:99790386

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr3:99790386

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr3:99790386

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr3:99790386

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr3:99790386

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr3:99790386

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr3:99790386

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr3:99790386

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr3:99790386

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr3:99790386

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr3:99790386

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr3:99790386

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr3:99790386

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr3:99790386

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr3:99790386

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr3:99790386

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr3:99790386

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr3:99790386

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr3:99790386

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr3:99790386

 

Other external references
 

    dbSNP
  • rs1131857
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.037 (benign)
    Web search results (18 hits -- see all)
  • The association between genetic polymorphisms of ...
    BioInfoBank Library :: The association between genetic polymorphisms of coproporphyrinogen oxidase and an atypical porphyrinogenic response to mercury exposure in ...
    lib.bioinfo.pl/pmid:15967199
  • Microsoft Word - 159-ajbbcorectedbyauthor
    ALAD2 variant and variants in CPOX-4 and CPOX-5 were evaluated in 450 autistic children ... CPOX exon 4: N272H; 814A>C (rs1131857) Forward. CCA GTA ATG CTG AAT ...
    www.scipub.org/fulltext/ajbb/ajbb4285-94.pdf
  • The Use of Urinary Porphyrins Analysis in Autism
    recently described a polymorphism in exon 4 (N272H) of the. gene that encodes for the ... the interaction of mercury and coproporphyrinogen oxidase (CPOX) ...
    icdrc.org/documents/Rossignol porphyrins medical veritas ...
  • A cascade analysis of the interaction of mercury and ...
    Fig. 1. Role of mercury, CPOX, and UROD in heme biosynthetic pathway. ... 4 of the CPOX gene (CPOX4 polymorphism) encoding a. N272H substitution in the CPOX4 gene ...
    www.filariane.org/anglais/DOC/cascade_galley.pdf
  • AceView: Gene:CPOX, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=CPOX
  • Nutraceutique de Bien- Vieillir
    Role of Mercury , CPOX and UROD in Heme biosynthetic pathway ... CPOX. Wild Cop-Ox. 85% Cop-Ox. mutation. N272H exon 4. 15% Laboratoire Philippe Auguste. 19 ...
    www.hbotnm.com/Porphyrin PowerPoint.pdf
  • The Use of Urinary Porphyrins Analysis in Autism
    polymorphism in exon 4 (N272H) of the gene that. encodes for the production of the heme ... sive for the CPOX-4 and BDNF genes appear to be. more susceptible to mercury toxicity ...
    www.brainchildnutritionals.com/PDF/Rossignol.pdf
  • Autism Blog - CDDS Data, Flu Vaccines And Likely Predictions ...
    Studies suggest that this variant CPOX preferentially converts the upstream 5 ... KICP excretion and the APR in Hg-exposed subjects carrying the variant CPOX gene. ...
    leftbrainrightbrain.co.uk/2006/04/cdds-data-flu-vaccines-...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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