RECQL4 E71G - 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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RECQL4 E71G

(RECQL4 Glu71Gly)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:17am by Genome Importing Robot.

Added in this revision:

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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the RECQL4 gene
    Baller-Gerold Syndrome
    Rapadilino Syndrome
    RECQL4-Related Disorders
    Rothmund-Thomson Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RECQL4

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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