C14ORF23 K116Shift - 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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Curation:
Currentness:

C14ORF23 K116Shift

(C14ORF23 116delKinsShift)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het AC @ chr14:29261310

 

hu034DB1

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het AC @ chr14:29261310

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het AC @ chr14:29261310

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het AC @ chr14:29261310

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het AC @ chr14:29261310

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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