HLA-DQA1 S75H - 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 S75H

(HLA-DQA1 Ser75His)


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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het CA @ chr6:32609227

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CA @ chr6:32609227

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CA @ chr6:32609227

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het CA @ chr6:32609227

 

Other external references
 

    dbSNP
  • rs3207985
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in