CC2D2B Q401L - GET-Evidence

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

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CC2D2B Q401L

(CC2D2B Gln401Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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

  • rs1336459
    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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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