CC2D2B Q401L - GET-Evidence

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

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Curation:
Currentness:

CC2D2B Q401L

(CC2D2B Gln401Leu)


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 @ chr10:97791761: 3.2% (310/9550) in EVS
  • Frequency shown in summary reports: 3.2% (310/9550)

Publications
 

Genomes
 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr10:97791761

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr10:97791761

 

Other external references
 

    dbSNP
  • rs1336459
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • CC2D2B Gene - GeneCards | C2D2B Protein | C2D2B Antibody
    CC2D2B Gene in genomic location: bands according to Ensembl, locations according to (and ... for CC2D2B gene (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B
  • Protein CC2D2B - Homo sapiens (Human)
    sp|Q6DHV5|C2D2B_HUMAN Protein CC2D2B OS=Homo sapiens GN=CC2D2B PE=2 SV=2 ... Protein CC2D2B. Gene names. Name: CC2D2B. Synonyms: C10orf130. Organism ...
    www.uniprot.org/uniprot/Q6DHV5

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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