HLA-DQA1 R64K - 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 R64K

(HLA-DQA1 Arg64Lys)


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 @ chr6:32609195: 8.4% (896/10674) in EVS
  • A @ chr6:32717172: 17.0% (16/94) in GET-Evidence
  • Frequency shown in summary reports: 8.4% (896/10674)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr6:32609195

 

hu0D879F

 

huBEDA0B

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr6:32717173

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr6:32717173

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr6:32717173

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr6:32717173

 

Other external references
 

    dbSNP
  • rs36219699
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • AceView: Gene:HLA-DQA1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/...&l=HLA-DQA1andHLA-DQA2
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... Polymorphism (dbSNP:rs2287669) 11230166 HLA-DPB1 P04440 L207M 198 VAR_033447 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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