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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(CPOX Asn272His)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)










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

  • rs1131857
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in