IL17F V155I - GET-Evidence

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

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Curation:
Currentness:

IL17F V155I

(IL17F Val155Ile)


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 @ chr6:52101758: 3.1% (330/10758) in EVS
  • T @ chr6:52209716: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (330/10758)

Publications
 

Genomes
 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr6:52101758

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:52209717

 

Other external references
 

    dbSNP
  • rs11465553
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.564 (possibly damaging)
    Web search results (7 hits -- see all)
  • IL17F Gene - GeneCards | IL17F Protein | IL17F Antibody
    Sigma-Aldrich Antibodies for IL17F. R&D Systems Antibodies for IL17F (IL-17F) Search for ... Abnova (IL17F) Novus Biologicals Antibodies for IL17F. Browse ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=IL17F
  • Association analysis of the interleukin 17 genes IL17A and ...
    ... six remaining SNPs, two were non‐synonymous (rs11465553 and rs2397084) ... IL17F as potential osteoarthrit...Association analysis of the interleukin 17 genes IL17A and IL17F as ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1798089
  • Interleukin-17F precursor - Homo sapiens (Human)
    IL17F. Synonyms: IL24. Organism. Homo sapiens (Human) [Complete proteome] ... V I: dbSNP rs11465553. VAR_058288. Natural variant. 161. 1. H R: dbSNP rs763780. Ref.3 ...
    www.uniprot.org/uniprot/Q96PD4
  • SNP Dataset 4 (xls 2034K) - Nature Publishing Group : science ...
    IL17F. 6. 52209443. 52217257. 40. 469. rs612242. C/G. intron/UTR. 470. rs721430 ... rs11465553. A/G. non-synonimous. 500. rs11465554. A/G. intron/UTR. 501. rs12182710. C/T. intron/UTR ...
    www.nature.com/sc/journal/v47/n2/extref/sc200867x6.xls
  • A Multiplex Human Syndrome Implicates a Key Role for ...
    Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, ... rs11465553 CAT-H; CGT-R; H161R; probably damaging. U:AA, A:AA, C:AA, ...
    download.cell.com/AJHG/.../PIIS0002929709000081.mmc1.pdf
  • UniProt: IL17F_HUMAN
    AC Q96PD4; Q6NSI0; Q7Z6P4; Q96PI8; Q9NUE6; DT 31-JAN-2002, integrated ... GeneCards; GC06M052209; -. DR H-InvDB; HIX0032794; -. DR HGNC; HGNC:16404; IL17F. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:IL17F_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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