F7 R391Q - 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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F7 R391Q

(F7 Arg391Gln)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm 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
 

Added in this revision:

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr13:113773159

 

NA18507

 

snp-18

 

Other external references
 

    dbSNP
  • rs6046
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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":

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