FLG P478S - GET-Evidence

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

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Curation:
Currentness:

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FLG P478S

(FLG Pro478Ser)


You are viewing an old version of this page that was saved on May 19, 2010 at 6:28pm 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

  • A @ chr1:152285930: 15.8% (1705/10758) in EVS
  • A @ chr1:150552553: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 15.8% (1705/10758)

Publications
 

Genomes
 

Added in this revision:

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:152285930

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr1:152285930

 

NA12878

 

NA18507

 

NA18956

 

NA19129

 

snp-1

 

snp-2

 

snp-27

 

snp-29

 

snp-30

 

snp-31

 

snp-5

 

Other external references
 

    dbSNP
  • rs11584340
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLG gene
    FGFR-Related Craniosynostosis
    Kallmann Syndrome
    FGFR1-Related Craniosynostosis
    Kallmann Syndrome 2
    Osteoglophonic Dysplasia
    Pfeiffer Syndrome Type 1, 2 and 3
    Ichthyosis Vulgaris
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (12 hits -- see all)
  • Association between P478S polymorphism of the filaggrin gene ...
    Thus, FLG genetic variants may modify the risk of psoriasis. ... In conclusion, our results suggest that FLG P478S polymorphism may confer susceptibility to the development ...
    www.ncbi.nlm.nih.gov/pubmed/18193244
  • FLG Gene - GeneCards | FILA Protein | FILA Antibody
    Complete information for FLG gene (protein-coding), filaggrin
    genecards.org/cgi-bin/carddisp.pl?gene=FLG&search=filaggrin
  • CrossRef Cited By Search Results : nature.com
    Association between P478S polymorphism of the filaggrin gene and risk of ... Ichthyosis vulgaris: novel FLG mutations in the German population and high ...
    www.nature.com/cited/cited.html?doi=10.1038/ng1743
  • Player guild dynamics and evolution in massively multiplayer ...
    Thus, FLG genetic variants may modify the risk of psoriasis. ... In conclusion, our results suggest that FLG P478S polymorphism may confer susceptibility to the development ...
    lib.bioinfo.pl/pmid:18537499
  • FLG
    Scientific Experts, Genomes and Genes, Publications, Research Grants, Webpages, Research Topics about FLG
    www.labome.org/gene/human/flg-2312.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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