HLA-DQA1 G79R - 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:

HLA-DQA1 G79R

(HLA-DQA1 Gly79Arg)


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
 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom AGA @ chr6:32609239

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het AGA @ chr6:32609239

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het AGA @ chr6:32609239

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het AGA @ chr6:32609239

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het AGA @ chr6:32609239

 

GS07357 - var-GS07357-1100-36-ASM
het - @ chr6:32717217

 

Other external references
 

    dbSNP
  • rs12722072
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs9279909
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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