FLG P478S - GET-Evidence

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

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(FLG Pro478Ser)

You are viewing an old version of this page that was saved on November 15, 2012 at 1:28pm by Natalia Trikoz.

Edited in this revision:

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)


Wang IJ, Lin TJ, Kuo CF, Lin SL, Lee YL, Chen PC. Filaggrin polymorphism P478S, IgE level, and atopic phenotypes. Br J Dermatol. 2011 Apr;164(4):791-6. doi: 10.1111/j.1365-2133.2011.10212.x. PubMed PMID: 21219289.



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:152285930



hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:152285930


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:152285930



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


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


GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:150552554


GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:150552554


GS18502 - var-GS18502-1100-36-ASM
het A @ chr1:150552554


GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:150552554


GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:150552554


GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:150552554


GS18558 - var-GS18558-1100-36-ASM
het A @ chr1:150552554


GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:150552554


GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:150552554


GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:150552554


GS18956 - var-GS18956-1100-36-ASM
hom A @ chr1:150552554


GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:150552554


GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:150552554


GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:150552554


GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:150552554


GS20502 - var-GS20502-1100-36-ASM
het A @ chr1:150552554


GS21767 - var-GS21767-1100-36-ASM
hom A @ chr1:150552554


Other external references

  • rs11584340
  • 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
  • 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 ...
  • FLG Gene - GeneCards | FILA Protein | FILA Antibody
    Complete information for FLG gene (protein-coding), 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 ...
  • 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 ...
  • FLG
    Scientific Experts, Genomes and Genes, Publications, Research Grants, Webpages, Research Topics about FLG

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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