HLA-DQB1 L28S - 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 L28S

(HLA-DQB1 Leu28Ser)


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

  • GTGA @ chr6:32742277: 37.5% (24/64) in GET-Evidence
  • Frequency shown in summary reports: 37.5% (24/64)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom GA @ chr6:32634302

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het GA @ chr6:32634302

 

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

 

 

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

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom GA @ chr6:32634302

 

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

 

GS12004 - var-GS12004-1100-36-ASM
het GA @ chr6:32742280

 

GS18501 - var-GS18501-1100-36-ASM
het GA @ chr6:32742280

 

GS18502 - var-GS18502-1100-36-ASM
hom GA @ chr6:32742280

 

GS18537 - var-GS18537-1100-36-ASM
hom GA @ chr6:32742280

 

GS19017 - var-GS19017-1100-36-ASM
het GA @ chr6:32742280

 

GS19025 - var-GS19025-1100-36-ASM
hom GA @ chr6:32742280

 

GS19238 - var-GS19238-1100-36-ASM
het GA @ chr6:32742280

 

Other external references
 

    dbSNP
  • rs1049062
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1130366
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs67851506
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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