WDR62 G1375S - 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:

WDR62 G1375S

(WDR62 Gly1375Ser)


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 @ chr19:36594853: 3.2% (340/10758) in EVS
  • A @ chr19:41286692: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (340/10758)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr19:36594853

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr19:36594853

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr19:36594853

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr19:36594853

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr19:36594853

 

Other external references
 

    dbSNP
  • rs17851503
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • AceView: Gene:WDR62, 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/av.cgi?...&l=C19orf14
  • WD repeat-containing protein 62 - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button ... WDR62. Synonyms: C19orf14. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/O43379
  • WDR62 Gene - GeneCards | WDR62 Protein | WDR62 Antibody
    WDR62 Gene. protein-coding GIFtS: 49. GC19P041240. WD repeat domain 62 ... WDR62 Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=WDR62&...&snp=87
  • UniProt: O43379
    AC O43379; Q63HP9; Q659D7; Q8NBF7; Q96AD9; DT 03-APR-2007, integrated into ... containing protein 62; GN Name=WDR62; Synonyms=C19orf14; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O43379

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in