COPZ2 G19Shift - 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:

COPZ2 G19Shift

(COPZ2 19delGinsShift)


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

  • None available.

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom GG @ chr17:46115085

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom GG @ chr17:46115085

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom GG @ chr17:46115085

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom GG @ chr17:46115085

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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