TAF1C G541S - 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:

TAF1C G541S

(TAF1C Gly541Ser)


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 @ chr16:84213254: 0.7% (70/10720) in EVS
  • Frequency shown in summary reports: 0.7% (70/10720)

Publications
 

Genomes
 

Other external references
 

    Web search results (2 hits -- see all)
  • TATA box-binding protein-associated factor RNA polymerase I ...
    TAF1C. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. ...
    www.uniprot.org/uniprot/Q15572
  • Mooney Lab - MutDB
    Gene ID: TAF1C. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... TAF1C. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=TAF1C&geneid=9013

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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