HLA-DQA1 E73L - 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:

(See the latest version)

HLA-DQA1 E73L

(HLA-DQA1 Glu73Leu)


You are viewing an old version of this page that was saved on November 29, 2012 at 6:39am by Genome Importing Robot.

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
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het CT @ chr6:32609221

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom CT @ chr6:32609221

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CTGT @ chr6:32609221

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CTGT @ chr6:32609221

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom CT @ chr6:32609221

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het CT @ chr6:32609221

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CTGT @ chr6:32609221

 

 

Added in this revision:

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CT @ chr6:32609221

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom CT @ chr6:32609221

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CT @ chr6:32609221

 

Other external references
 

    dbSNP
  • rs12722061
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in