DDX54 R693Q - 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:

DDX54 R693Q

(DDX54 Arg693Gln)


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

  • T @ chr12:113600940: 4.7% (509/10758) in EVS
  • T @ chr12:112085322: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (509/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr12:113600940

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr12:113600940

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr12:112085323

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr12:112085323

 

Other external references
 

    dbSNP
  • rs11564
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.86 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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