HLA-DQB1 L58Y - 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-DQB1 L58Y

(HLA-DQB1 Leu58Tyr)


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
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het TA @ chr6:32632781

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het TA @ chr6:32632781

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CCC @ chr6:32632781

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CCC @ chr6:32632781

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CCC @ chr6:32632781

 

Other external references
 

    dbSNP
  • rs74184882
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1049066
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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