GLCE M65V - 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:

GLCE M65V

(GLCE Met65Val)


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 @ chr15:69548338: 1.2% (125/10758) in EVS
  • G @ chr15:67335391: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (125/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • GLCE Gene - GeneCards | GLCE Protein | GLCE Antibody
    GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic ... GLCE Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GLCE
  • D-glucuronyl C5-epimerase - Homo sapiens (Human)
    GLCE. Synonyms: KIAA0836. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... M V: dbSNP rs12440300. VAR_055837. Natural variant. 597. 1. V I: dbSNP rs3865014. Ref.3 ...
    www.uniprot.org/uniprot/O94923
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • UniProt: GLCE_HUMAN
    AC O94923; Q6GUQ2; DT 15-NOV-2002, integrated into UniProtKB/Swiss ... glucuronic acid C5-epimerase; GN Name=GLCE; Synonyms=KIAA0836; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+GLCE_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in