FLG E755K - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

(See the latest version)

FLG E755K

(FLG Glu755Lys)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

  • T @ chr1:152285099: 13.9% (1490/10758) in EVS
  • T @ chr1:150551722: 15.5% (17/110) in GET-Evidence
  • Frequency shown in summary reports: 13.9% (1490/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr1:152285099

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:152285099

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr1:152285099

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr1:152285099

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:150551723

 

Added in this revision:

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:150551723

 

NA12878

 

NA18507

 

NA18956

 

NA19129

 

snp-1

 

snp-2

 

Other external references
 

    dbSNP
  • rs74129461
    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 = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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