HLA-DQA1 Y103S - 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 Y103S

(HLA-DQA1 Tyr103Ser)


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 @ chr6:32609312: 21.1% (2128/10064) in EVS
  • C @ chr6:32717289: 21.9% (21/96) in GET-Evidence
  • Frequency shown in summary reports: 21.1% (2128/10064)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr6:32609312

 

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr6:32717290

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr6:32717290

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr6:32717290

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr6:32717290

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr6:32717290

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr6:32717290

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr6:32717290

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr6:32717290

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr6:32717290

 

Other external references
 

    dbSNP
  • rs1129808
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in