AGRN E728V - 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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AGRN E728V

(AGRN Glu728Val)


You are viewing an old version of this page that was saved on February 26, 2010 at 2:53pm by Genome Importing Robot.

Allele frequency

  • T @ chr1:979748: 3.0% (324/10752) in EVS
  • T @ chr1:969610: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (324/10752)

Publications
 

Genomes
 

Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr1:979748

 

Other external references
 

    dbSNP
  • rs113288277
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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