HLA-DQA1 RW70CL - 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 RW70CL

(HLA-DQA1 70_71delRWinsCL)


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

  • None available.

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CAGTT @ chr6:32609212

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het AAGTT @ chr6:32609212

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het TGTTT @ chr6:32609212

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom TGTTT @ chr6:32609212

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom TGTTT @ chr6:32609212

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het TGTTT @ chr6:32609212

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het TGTTT @ chr6:32609212

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het AAGTT @ chr6:32609212

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CAGTT @ chr6:32609212

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CAGTT @ chr6:32609212

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom TGTTT @ chr6:32609212

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het TGTTT @ chr6:32609212

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het CAGTT @ chr6:32609212

 

GS18526 - var-GS18526-1100-36-ASM
hom TGTTT @ chr6:32717190

 

Other external references
 

    dbSNP
  • rs1142326
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs3207983
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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