HLA-DQA1 G84F - 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-DQA1 Gly84Phe)

You are viewing an old version of this page that was saved on November 29, 2012 at 4:34am by Genome Importing Robot.

Short summary


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

  • ATT @ chr6:32717230: 12.2% (12/98) in GET-Evidence
  • Frequency shown in summary reports: 12.2% (12/98)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom ATT @ chr6:32609253


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom ATT @ chr6:32609253


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het ATT @ chr6:32609253


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom ATT @ chr6:32609253


Added in this revision:

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het ATT @ chr6:32609253


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het ATT @ chr6:32609253


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom ATT @ chr6:32609253



huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom ATT @ chr6:32609253


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom ATT @ chr6:32609253


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom ATT @ chr6:32609253


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het ATT @ chr6:32609253


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het ATT @ chr6:32609253


GS07357 - var-GS07357-1100-36-ASM
hom ATT @ chr6:32717231


GS10851 - var-GS10851-1100-36-ASM
hom ATT @ chr6:32717231


GS18526 - var-GS18526-1100-36-ASM
hom ATT @ chr6:32717231


GS18555 - var-GS18555-1100-36-ASM
hom ATT @ chr6:32717231


GS20509 - var-GS20509-1100-36-ASM
hom ATT @ chr6:32717231


Other external references

  • rs9272702

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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