HLA-DQA1 Q198E - 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 Q198E

(HLA-DQA1 Gln198Glu)


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 @ chr6:32610009: 39.0% (2928/7506) in EVS
  • TG @ chr6:32717985: 36.2% (29/80) in GET-Evidence
  • Frequency shown in summary reports: 39.0% (2928/7506)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het TG @ chr6:32610008

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom TG @ chr6:32610008

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom TG @ chr6:32610008

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom TG @ chr6:32610008

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom TG @ chr6:32610008

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het TG @ chr6:32610008

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het TG @ chr6:32610008

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het CG @ chr6:32610008

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het TG @ chr6:32610008

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het TG @ chr6:32610008

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het TG @ chr6:32610008

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom TG @ chr6:32610008

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom TG @ chr6:32610008

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom TG @ chr6:32610008

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het TG @ chr6:32610008

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het TG @ chr6:32610008

 

GS06994 - var-GS06994-1100-36-ASM
het TG @ chr6:32717986

 

GS10851 - var-GS10851-1100-36-ASM
hom TG @ chr6:32717986

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr6:32717987

 

GS18537 - var-GS18537-1100-36-ASM
het TG @ chr6:32717986

 

GS18558 - var-GS18558-1100-36-ASM
het TG @ chr6:32717986

 

GS18956 - var-GS18956-1100-36-ASM
het TG @ chr6:32717986

 

GS19700 - var-GS19700-1100-36-ASM
het TG @ chr6:32717986

 

GS19703 - var-GS19703-1100-36-ASM
hom TG @ chr6:32717986

 

GS19704 - var-GS19704-1100-36-ASM
hom TG @ chr6:32717986

 

Other external references
 

    dbSNP
  • rs2308891
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1129957
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs2308890
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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