HLA-DQB1 M24I - 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 M24I

(HLA-DQB1 Met24Ile)


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 @ chr6:32634313: 19.7% (1948/9874) in EVS
  • G @ chr6:32742290: 32.4% (22/68) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (1948/9874)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr6:32634313

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr6:32634313

 

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr6:32742291

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr6:32742291

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:32742291

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr6:32742291

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:32742291

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr6:32742291

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr6:32742291

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr6:32742291

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr6:32742291

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr6:32742291

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:32742291

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr6:32742291

 

Other external references
 

    dbSNP
  • rs1049059
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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