HLA-DQA1 A183D - 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 A183D

(HLA-DQA1 Ala183Asp)


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

  • A @ chr6:32609965: 7.8% (587/7510) in EVS
  • A @ chr6:32717942: 4.1% (3/74) in GET-Evidence
  • Frequency shown in summary reports: 7.8% (587/7510)

Publications
 

Genomes
 

 

 

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr6:32717943

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr6:32717943

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr6:32717943

 

Other external references
 

    dbSNP
  • rs35773148
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs7990
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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