GGN Q647X - 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.

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(GGN Gln647Stop)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:56pm by Genome Importing Robot.

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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 @ chr19:38875072: 0.9% (94/10758) in EVS
  • A @ chr19:43566911: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (94/10758)



Other external references

    Web search results (1 hit -- see all)
  • GGN Gene - GeneCards | GGN Protein | GGN Antibody
    EntrezGene summary for GGN: This gene is a germ cell-specific gene ... GGN Gene in genomic location: bands according to Ensembl, locations according to ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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