PRDM15 R88Shift - 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:

PRDM15 R88Shift

(PRDM15 88delRinsShift)


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
hom G @ chr21:43298955

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom G @ chr21:43298955

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr21:43298955

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom G @ chr21:43298955

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr21:43298955

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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