HLA-DQB1 LL28PV - 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-DQB1 LL28PV

(HLA-DQB1 28_29delLLinsPV)


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

  • CTGG @ chr6:32742277: 15.6% (10/64) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (10/64)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom CTG @ chr6:32634300

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom CTG @ chr6:32634300

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom CTG @ chr6:32634300

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom CCG @ chr6:32634300

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom CCG @ chr6:32634300

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom CCG @ chr6:32634300

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CTGG @ chr6:32634300

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom CTG @ chr6:32634300

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom CTG @ chr6:32634300

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CTGG @ chr6:32634300

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het CTGG @ chr6:32634300

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het CTGG @ chr6:32634300

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CCG @ chr6:32634300

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CCG @ chr6:32634300

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het CCG @ chr6:32634300

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom CTG @ chr6:32634300

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom CCG @ chr6:32634300

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CTGG @ chr6:32634300

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CTGG @ chr6:32634300

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CCGG @ chr6:32634300

 

GS18947 - var-GS18947-1100-36-ASM
hom CTG @ chr6:32742278

 

Other external references
 

    dbSNP
  • rs67851506
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1130366
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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