AGRN E728V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

AGRN E728V

(AGRN Glu728Val)


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 @ chr1:979748: 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
 

 

 

 

 

 

 

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

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:969611

 

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 = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in