IL10RA S420L - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

IL10RA S420L

(IL10RA Ser420Leu)


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

  • T @ chr11:117869878: 3.4% (361/10758) in EVS
  • T @ chr11:117375087: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (361/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr11:117869878

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr11:117869878

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr11:117869878

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr11:117869878

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr11:117375088

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr11:117375088

 

Other external references
 

    dbSNP
  • rs2229114
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.983 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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