HLA-DQB1 Q253H - 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-DQB1 Q253H

(HLA-DQB1 Gln253His)


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

  • G @ chr6:32629137: 29.0% (2856/9860) in EVS
  • G @ chr6:32737114: 33.3% (32/96) in GET-Evidence
  • Frequency shown in summary reports: 29.0% (2856/9860)

Publications
 

Genomes
 

hu034DB1

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr6:32629137

 

hu34D5B9 - hu34D5B9 exome
hom G @ chr6:32629137

 

hu9385BA

 

huC30901

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr6:32737115

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr6:32737115

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:32737115

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:32737115

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr6:32737115

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr6:32737115

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr6:32737115

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr6:32737115

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr6:32737115

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr6:32737115

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr6:32737115

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr6:32737115

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr6:32737115

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr6:32737115

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:32737115

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr6:32737115

 

Other external references
 

    dbSNP
  • rs1140343
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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