RGPD4 Q1169R - 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)

RGPD4 Q1169R

(RGPD4 Gln1169Arg)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:01am 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 @ chr2:108487966: 4.1% (48/1168) in EVS
  • Frequency shown in summary reports: 4.1% (48/1168)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs832357
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • RGPD4 Gene - GeneCards | RGPD4 Protein | RGPD4 Antibody
    RGPD4 Gene in genomic location: bands according to Ensembl, locations ... for RGPD4 gene (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RGPD4&snp=188

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in