HLA-DQA1 A68V - 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 A68V

(HLA-DQA1 Ala68Val)


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

  • T @ chr6:32609207: 35.4% (3738/10570) in EVS
  • Frequency shown in summary reports: 35.4% (3738/10570)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr6:32609207

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr6:32609207

 

 

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr6:32717185

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr6:32717185

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr6:32717185

 

Other external references
 

    dbSNP
  • rs1048038
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1142324
    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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