ARHGEF18 Q701R - 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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ARHGEF18 Q701R

(ARHGEF18 Gln701Arg)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:01am 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

  • G @ chr19:7528734: 80.9% (8663/10710) in EVS
  • Frequency shown in summary reports: 80.9% (8663/10710)

Publications
 

Genomes
 

hu034DB1

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr19:7528734

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom G @ chr19:7434734

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr19:7528734

 

NA07022

 

Deleted in this revision:

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

snp-18

 

Other external references
 

    dbSNP
  • rs2287918
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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