TBCC P180S - 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.

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(TBCC Pro180Ser)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:05pm by Genome Importing Robot.

Added in this revision:

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

  • A @ chr6:42713274: 0.9% (96/10750) in EVS
  • A @ chr6:42821251: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (96/10750)



Other external references

  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • TBCC Gene - GeneCards | TBCC Protein | TBCC Antibody
    EntrezGene summary for TBCC: Cofactor C is one of four proteins ... TBCC Gene in genomic location: bands according to Ensembl, locations according ...
  • Tubulin-specific chaperone C - Homo sapiens (Human)
    TBCC. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... Belongs to the TBCC family. Contains 1 C-CAP/cofactor C-like domain. Hide | Top ...
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
  • UniProt: Q15814
    ... Tubulin-folding cofactor C; DE Short=CFC; GN Name=TBCC; OS Homo sapiens (Human) ... SIMILARITY: Belongs to the TBCC family. CC -!- SIMILARITY: Contains 1 ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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