GAA R223H - 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)

GAA R223H

(GAA Arg223His)


You are viewing an old version of this page that was saved on May 12, 2010 at 12:01pm 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 @ chr17:78079669: 67.3% (7237/10756) in EVS
  • A @ chr17:75694263: 61.3% (76/124) in GET-Evidence
  • Frequency shown in summary reports: 67.3% (7237/10756)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:78079669

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr17:78079669

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

snp-18

 

snp-26

 

snp-29

 

snp-3

 

snp-30

 

Added in this revision:

snp-32

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1042395
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in