RYK L17Shift - 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:

RYK L17Shift

(RYK 17delLinsShift)


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
hom G @ chr3:133969438

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr3:133969438

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr3:133969438

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom G @ chr3:133969438

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom G @ chr3:133969438

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom G @ chr3:133969438

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr3:133969438

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr3:133969438

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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