HLA-DQA1 M99L - 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 M99L

(HLA-DQA1 Met99Leu)


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

  • C @ chr6:32609299: 8.6% (811/9466) in EVS
  • TCC @ chr6:32717274: 6.6% (7/106) in GET-Evidence
  • Frequency shown in summary reports: 8.6% (811/9466)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het GTC @ chr6:32609297

 

 

 

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

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr6:32717277

 

Other external references
 

    dbSNP
  • rs1064944
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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