HLA-DQB1 S214N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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HLA-DQB1 S214N

(HLA-DQB1 Ser214Asn)


You are viewing an old version of this page that was saved on June 15, 2011 at 5:38pm by Han Luu.

Edited in this revision:

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.16
GVGD: Class C0

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

  • T @ chr6:32629764: 33.6% (3604/10736) in EVS
  • T @ chr6:32737741: 1.5% (1/66) in GET-Evidence
  • Frequency shown in summary reports: 33.6% (3604/10736)

Publications
 

Genomes
 

 

NA18507

 

NA18517

 

NA18956

 

snp-28

 

Other external references
 

    dbSNP
  • rs1130398
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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