TYK2 V362F - 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 V362F

(TYK2 Val362Phe)


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

  • A @ chr19:10475652: 22.5% (2421/10758) in EVS
  • A @ chr19:10336651: 19.2% (23/120) in GET-Evidence
  • Frequency shown in summary reports: 22.5% (2421/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr19:10475652

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr19:10475652

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr19:10475652

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr19:10475652

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr19:10475652

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr19:10475652

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr19:10475652

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr19:10475652

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr19:10475652

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr19:10475652

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr19:10475652

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr19:10475652

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr19:10475652

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr19:10475652

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr19:10475652

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr19:10475652

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr19:10475652

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr19:10475652

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr19:10475652

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr19:10475652

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr19:10336652

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr19:10336652

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:10336652

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr19:10336652

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr19:10336652

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:10336652

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr19:10336652

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr19:10336652

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr19:10336652

 

Other external references
 

    dbSNP
  • rs2304256
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • Type 1 diabetes (rs2304256-C)
    Wallace 6-Dec-09 in Nat Genet
    OR or beta: 1.16 [1.11-1.22]
    Risk allele frequency: 0.71
    p-value: 4.00E-09
    Initial sample: 7,514 European ancestry cases, 9,045 European ancestry controls
    Replication sample: 4,840 European ancestry cases, 2,670 European ancestry controls, 4,152 European ancestry familial triads
    www.ncbi.nlm.nih.gov/pubmed/19966805
    PolyPhen-2
  • Score: 0.003 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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