CC2D2A K507E - 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!


(See the latest version)

CC2D2A K507E

(CC2D2A Lys507Glu)

You are viewing an old version of this page that was saved on June 22, 2011 at 11:09am by Genome Importing Robot.

Added in this revision:

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)



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":

Log in