HLA-DQA1 Q241R - 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 Q241R

(HLA-DQA1 Gln241Arg)


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

  • G @ chr6:32610495: 42.1% (3161/7506) in EVS
  • G @ chr6:32718472: 2.4% (2/82) in GET-Evidence
  • Frequency shown in summary reports: 42.1% (3161/7506)

Publications
 

Genomes
 

 

 

hu34D5B9 - hu34D5B9 exome
hom G @ chr6:32610495

 

 

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr6:32718473

 

NA19240

 

Other external references
 

    dbSNP
  • rs9272793
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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