TYK2 G363S - 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:

TYK2 G363S

(TYK2 Gly363Ser)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:09am by Genome Importing Robot.

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 @ chr19:10475649: 5.8% (627/10758) in EVS
  • T @ chr19:10336648: 2.4% (3/124) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (627/10758)

Publications
 

Genomes
 

Added in this revision:

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr19:10475649

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:10475649

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr19:10475649

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr19:10475649

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr19:10475649

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr19:10475649

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr19:10475649

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr19:10336649

 

Other external references
 

    dbSNP
  • rs2304255
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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