F7 R391Q - 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:

(See the latest version)

F7 R391Q

(F7 Arg391Gln)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:09am 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 @ chr13:113773159: 10.9% (1168/10752) in EVS
  • Frequency shown in summary reports: 10.9% (1168/10752)

Publications
 

Genomes
 

NA18507

 

Deleted in this revision:

NA18507

 

Other external references
 

    Web search results (3 hits -- see all)
  • Beauty and the beast!! :) - DSC09093.jpg (1/1) - alt.fan.fog ...
    Gmail Calendar Documents Reader Web more. Photos Sites Groups YouTube. Images Videos Maps ... Subscribe to this group. This is a Usenet group - learn more. Beauty ...
    groups.google.com.au/group/alt.fan.fog/browse_thread/...
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in