HLA-DQA1 A210T - 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 A210T

(HLA-DQA1 Ala210Thr)


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 @ chr6:32610401: 14.8% (1112/7520) in EVS
  • ACA @ chr6:32718378: 8.7% (8/92) in GET-Evidence
  • Frequency shown in summary reports: 14.8% (1112/7520)

Publications
 

Genomes
 

hu34D5B9 - hu34D5B9 exome
hom A @ chr6:32610401

 

 

huAE6220

 

GS18537 - var-GS18537-1100-36-ASM
het ACA @ chr6:32718379

 

GS18555 - var-GS18555-1100-36-ASM
het ACA @ chr6:32718379

 

GS19704 - var-GS19704-1100-36-ASM
hom ACA @ chr6:32718379

 

GS19735 - var-GS19735-1100-36-ASM
het ACA @ chr6:32718379

 

Other external references
 

    dbSNP
  • rs9272785
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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