RGPD4 D761G - 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:

RGPD4 D761G

(RGPD4 Asp761Gly)


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

  • None available.

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr2:108479214

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr2:108479214

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr2:108479214

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr2:108479214

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr2:108479214

 

Other external references
 

    dbSNP
  • rs831999
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • RANBP2 Gene - GeneCards | RBP2 Protein | RBP2 Antibody
    Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database ... RGPD6 2 RANBP1 2 RGPD2 2 RGPD4 2 RGPD3 2 RGPD1 2 RGPD8 2 RGPD5 2. RANBP2 for paralogs ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RANBP2

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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