HCN4 AG250ER - 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:

HCN4 AG250ER

(HCN4 250_251delAGinsER)


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 TCT @ chr15:73659861

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het TCT @ chr15:73659861

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het TCT @ chr15:73659861

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het TCT @ chr15:73659861

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het TCT @ chr15:73659861

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het TCT @ chr15:73659861

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het TCT @ chr15:73659861

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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