HLA-DQA1 M99V - 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.

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Curation:
Currentness:

HLA-DQA1 M99V

(HLA-DQA1 Met99Val)


Short summary

The genes coded for in the HLA region of the human genome are crucial to immune response. The region contains the Major Histocompatibility Complex (MHC) genes which code for proteins that form a complex with cell surface proteins. The HLA-DQ genes code for proteins are then recognized by helper T-cells which trigger antibody production and immune response.

Variant evidence
Computational -
Functional 2

See Setty MN et al. 2011 (21385049), Lipton RB et al. 2011 (21418452).

Case/Control -
Familial -
 
Clinical importance
Severity 2

See Setty MN et al. 2011 (21385049), Lipton RB et al. 2011 (21418452).

Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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
 

Setty MN, Gusev A, Pe'er I. HLA Type Inference via Haplotypes Identical by Descent. J Comput Biol. 2011 Mar;18(3):483-93. PubMed PMID: 21385049.

 

Lipton RB, Drum M, Greeley SA, Danielson KK, Bell GI, Hagopian WA. HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes. Pediatr Diabetes. 2011 Mar 21. doi: 10.1111/j.1399-5448.2010.00712.x. [Epub ahead of print] PubMed PMID: 21418452.

 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GTC @ chr6:32609297

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het GTC @ chr6:32609297

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GTC @ chr6:32609297

 

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr6:32717277

 

Other external references
 

    dbSNP
  • rs1064944
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

  • Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
  • Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
  • Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
  • Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
  • Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
  • Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited article 21385049 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 added article 21385049 view
  • Apr 1 2011 edited article 21418452 summary view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 added article 21418452 view
  • Apr 1 2011 edited variant summary view
  • Apr 1 2011 edited variant summary view
  • Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
  • Mar 29 2011 edited variant summary view
  • Mar 29 2011 edited variant summary view
  • Mar 29 2011 edited variant summary view
  • Mar 29 2011 edited variant summary view
  • Mar 29 2011 edited variant summary view
  • Mar 29 2011 edited variant summary view
  • Feb 27 2010 Genome Importing Robot added Desmond Tutu view
  • Feb 27 2010 Genome Importing Robot added variant view

Gene search

"GENE" or "GENE A123C":

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