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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Curation:
Currentness:

TBCC P180S

(TBCC Pro180Ser)


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

  • 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)

Publications
 

Genomes
 

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr6:42821252

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr6:42821252

 

Other external references
 

    dbSNP
  • rs2234028
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TBCC
  • 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 ...
    www.uniprot.org/uniprot/Q15814
  • 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. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q15814

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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