FAM35A T606Shift - 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:

FAM35A T606Shift

(FAM35A 606delTinsShift)


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
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het - @ chr10:88930417

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het - @ chr10:88930417

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het - @ chr10:88930417

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het - @ chr10:88930417

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het - @ chr10:88930417

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het - @ chr10:88930417

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in