FECH R102Q - 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)

FECH R102Q

(FECH Arg102Gln)


You are viewing an old version of this page that was saved on February 26, 2010 at 2:53pm 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

  • T @ chr18:55240505: 12.1% (1299/10758) in EVS
  • T @ chr18:53391502: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 12.1% (1299/10758)

Publications
 

Genomes
 

Added in this revision:

NA12156

 

NA12878

 

snp-5

 

snp-6

 

Other external references
 

    Web search results (1 hit -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in