FZD4 P168S - GET-Evidence

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

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Curation:
Currentness:

FZD4 P168S

(FZD4 Pro168Ser)


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 @ chr11:86663296: 1.6% (175/10758) in EVS
  • A @ chr11:86340943: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (175/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr11:86663296

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:86340944

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr11:86340944

 

Other external references
 

    dbSNP
  • rs61735303
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FZD4 gene
    Familial Exudative Vitreoretinopathy
    Familial Exudative Vitreoretinopathy, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FZD4
    PolyPhen-2
  • Score: 0.186 (benign)
    Web search results (15 hits -- see all)
  • Arch Ophthalmol -- Abstract: Clinical Presentation and ...
    Nine of the 63 patients with AdFEVR (14.3%) has mutations in the FZD4 gene. Four heterozygous mutations were identified: C117R, C181Y, Q505X, and P33S/P168S. ...
    archopht.ama-assn.org/cgi/content/short/127/12/1649?rss=1
  • Spectrum and Frequency of FZD4 Mutations in Familial ...
    Eight mutations have been identified in the FZD4 gene in a cohort of 40 unrelated ... change that was not disease specific was detected, P168S (c502CT) ...
    www.iovs.org/cgi/content/full/45/7/2083
  • P168s
    P168s - in the catalogue of ham radio resources at dxportal.com
    www.dxportal.com/stats/content/404653-p168s.html
  • v12a122-nallathambi.hsm
    The candidate gene FZD4 was amplified from genomic DNA and PCR products were ... The identified genetic variations of \i{FZD4} could play a vital role in ...
    www.molvis.org/molvis/v12/v12a122-nallathambi.hsm
  • rss4medics RSS Medical Health Feed View
    A view of the selected rss medical health care feed, provided by rss4medics.com.
    rss4medics.com/rss_directory/rssfeeds.php?...&submit=Read
  • Unbound MEDLINE | Clinical presentation and genetic ...
    Unbound MEDLINE | Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. Journal article. Search by keyword, journal, ...
    unboundmedicine.com/medline/ebm/record/20008721/...
  • Clinical presentation and genetic correlation of patients ...
    Nine of the 63 patients with AdFEVR (14.3%) has mutations in the FZD4 gene. Four heterozygous mutations were identified: C117R, C181Y, Q505X, and P33S/P168S. ...
    tripdatabase.com/doc/988434-Clinical-presentation-and-gen...
  • Nallathambi, Mol Vis 2006; 12:1086-1092. Table 2.
    Table 2. Summary of mutations in human FZD4. Shown are FZD4 gene mutations that have been identified in ... British [6] M157V American [6] P168S European [6] C181R Japanese [17] ...
    www.molvis.org/molvis/v12/a122/nallathambi-table2.html
  • Table 2. FEVR Mutations Detected in FZD4 Location cDNA change ...
    Table 2. FEVR Mutations Detected in FZD4. Location cDNA change. Protein change Publication ... Similarly, P168S was detected in 1/400 control. chromosomes but was ...
    ncbi.nlm.nih.gov/bookshelf/...&blobname=fevr-Table2.pdf
  • ELEVATED LEVELS OF CYSTATIN C AND TENASCIN-C IN SCHISIS ...
    Nine of the 63 patients with AdFEVR (14.3%) has mutations in the FZD4 gene. Four heterozygous mutations were identified: C117R, C181Y, Q505X, and P33S/P168S. ...
    lib.bioinfo.pl/pmid:18040250

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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