COX10 R159Q - 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:

COX10 R159Q

(COX10 Arg159Gln)


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

  • A @ chr17:13980350: 48.6% (5232/10758) in EVS
  • A @ chr17:13921074: 44.5% (57/128) in GET-Evidence
  • Frequency shown in summary reports: 48.6% (5232/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr17:13980350

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:13980350

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr17:13980350

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr17:13980350

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr17:13980350

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr17:13980350

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr17:13980350

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr17:13980350

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr17:13980350

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr17:13980350

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr17:13980350

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom A @ chr17:13980350

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr17:13980350

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom A @ chr17:13980350

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr17:13980350

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr17:13980350

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr17:13980350

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr17:13980350

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr17:13980350

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr17:13980350

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:13980350

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr17:13980350

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom A @ chr17:13980350

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr17:13980350

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr17:13980350

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr17:13980350

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr17:13921075

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:13921075

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr17:13921075

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr17:13921075

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:13921075

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr17:13921075

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr17:13921075

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr17:13921075

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr17:13921075

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr17:13921075

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr17:13921075

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr17:13921075

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr17:13921075

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr17:13921075

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr17:13921075

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr17:13921075

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr17:13921075

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:13921075

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr17:13921075

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr17:13921075

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr17:13921075

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr17:13921075

 

NA12878

 

Other external references
 

    dbSNP
  • rs8077302
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COX10 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COX10
    Web search results (2 hits -- see all)
  • AceView: Gene:COX10, 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=COX10
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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