FLG Y2119H - 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 Y2119H

(FLG Tyr2119His)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:46am 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

  • G @ chr1:152281007: 20.2% (2169/10758) in EVS
  • GG @ chr1:150547630: 4.9% (5/102) in GET-Evidence
  • Frequency shown in summary reports: 20.2% (2169/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GG @ chr1:152281007

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het GG @ chr1:152281007

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het GG @ chr1:152281007

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GG @ chr1:152281007

 

Added in this revision:

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GG @ chr1:152281007

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GG @ chr1:152281007

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het GG @ chr1:152281007

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GG @ chr1:152281007

 

GS10851 - var-GS10851-1100-36-ASM
het GG @ chr1:150547631

 

GS18558 - var-GS18558-1100-36-ASM
het GG @ chr1:150547631

 

GS19017 - var-GS19017-1100-36-ASM
het GG @ chr1:150547631

 

NA19240

 

Other external references
 

    dbSNP
  • rs7512553
    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
    Web search results (2 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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