WDR62 G1375S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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WDR62 G1375S

(WDR62 Gly1375Ser)

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

  • 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)



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

  • rs17851503
    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 ...
  • 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 ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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