TOPBP1 R309C - 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:

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TOPBP1 R309C

(TOPBP1 Arg309Cys)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:32am 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

  • A @ chr3:133371471: 6.9% (658/9480) in EVS
  • Frequency shown in summary reports: 6.9% (658/9480)

Publications
 

Genomes
 

Added in this revision:

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr3:133371471

 

Other external references
 

    dbSNP
  • rs55633281
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.928 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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