HLA-DQA1 F41S - 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 F41S

(HLA-DQA1 Phe41Ser)


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

  • C @ chr6:32609126: 42.5% (4562/10730) in EVS
  • C @ chr6:32717103: 27.3% (24/88) in GET-Evidence
  • Frequency shown in summary reports: 42.5% (4562/10730)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr6:32609126

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr6:32609126

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr6:32609126

 

 

 

 

 

 

 

 

huAE6220

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr6:32609126

 

 

 

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr6:32717104

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr6:32717104

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr6:32717104

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr6:32717104

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr6:32717104

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr6:32717104

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr6:32717104

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr6:32717104

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr6:32717104

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr6:32717104

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr6:32717104

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr6:32717104

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr6:32717104

 

Other external references
 

    dbSNP
  • rs1071630
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (12 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
  • Type II- 97%
    L486P 482 VAR_017828 PDGFR (0.710) EHK 12406348 HLA-DQA1 P01909 S41F 48 VAR_033401 PDGFR (0.622) Polymorphism ... (dbSNP:rs1054428) 16895901 HLA-DQA1 P01909 T49S 48 VAR_033403 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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