CC2D2A K507E - GET-Evidence

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

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CC2D2A K507E

(CC2D2A Lys507Glu)

You are viewing the latest version of this page, saved on June 22, 2011 at 11:12am by Genome Importing Robot.

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

  • G @ chr4:15534868: 0.7% (69/9450) in EVS
  • Frequency shown in summary reports: 0.7% (69/9450)



Added in this revision:


Other external references

  • GeneTests records for the CC2D2A gene
    Joubert Syndrome
    Meckel Syndrome
    CC2D2A-Related Joubert Syndrome
    CC2D2A-Related Meckel Syndrome

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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