HLA-DQB1 R252H - 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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(HLA-DQB1 Arg252His)

Short summary

May be associated with narcolepsy.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr6:32629141: 26.7% (2636/9882) in EVS
  • T @ chr6:32737118: 34.3% (35/102) in GET-Evidence
  • Frequency shown in summary reports: 26.7% (2636/9882)


Heier MS, Evsiukova T, Wilson J, Abdelnoor M, Hublin C, Ervik S. Prevalence of narcolepsy with cataplexy in Norway. Acta Neurol Scand. 2009 Oct;120(4):276-80. Epub 2009 May 15. PubMed PMID: 19456307.


Coelho FM, Pradella-Hallinan M, Pedrazzoli M, Soares CA, Fernandes GB, Gonçalves AL, Tufik S, Bittencourt LR. Traditional biomarkers in narcolepsy: experience of a Brazilian sleep centre. Arq Neuropsiquiatr. 2010 Oct;68(5):712-5. PubMed PMID: 21049180.





hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr6:32629141


hu34D5B9 - hu34D5B9 exome
hom T @ chr6:32629141







GS07357 - var-GS07357-1100-36-ASM
hom T @ chr6:32737119


GS10851 - var-GS10851-1100-36-ASM
hom T @ chr6:32737119


GS18502 - var-GS18502-1100-36-ASM
het T @ chr6:32737119


GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:32737119


GS18508 - var-GS18508-1100-36-ASM
hom T @ chr6:32737119


GS18517 - var-GS18517-1100-36-ASM
hom T @ chr6:32737119


GS18526 - var-GS18526-1100-36-ASM
hom T @ chr6:32737119


GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:32737119


GS18555 - var-GS18555-1100-36-ASM
hom T @ chr6:32737119


GS18940 - var-GS18940-1100-36-ASM
het T @ chr6:32737119


GS18956 - var-GS18956-1100-36-ASM
het T @ chr6:32737119


GS19026 - var-GS19026-1100-36-ASM
het T @ chr6:32737119


GS19240 - var-GS19240-1100-36-ASM
het T @ chr6:32737119


GS19669 - var-GS19669-1100-36-ASM
hom T @ chr6:32737119


GS19670 - var-GS19670-1100-36-ASM
hom T @ chr6:32737119


GS19700 - var-GS19700-1100-36-ASM
het T @ chr6:32737119


GS19834 - var-GS19834-1100-36-ASM
het T @ chr6:32737119


GS20509 - var-GS20509-1100-36-ASM
hom T @ chr6:32737119


Other external references

  • rs34134876
  • rs1140342
    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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