RGPD4 Q1169R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

RGPD4 Q1169R

(RGPD4 Gln1169Arg)


You are viewing the latest version of this page, saved on November 29, 2012 at 6:07am 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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:108487966

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr2:108487966

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:108487966

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr2:108487966

 

 

Added in this revision:

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:108487966

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr2:108487966

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr2:108487966

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr2:108487966

 

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":

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