ENGASE A5E - 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:

ENGASE A5E

(ENGASE Ala5Glu)


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

  • A @ chr17:77071040: 8.3% (599/7214) in EVS
  • Frequency shown in summary reports: 8.3% (599/7214)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr17:77071040

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr17:77071040

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het A @ chr17:77071040

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr17:77071040

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr17:77071040

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr17:77071040

 

NA12878

 

Other external references
 

    dbSNP
  • rs56107536
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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