TAF1C R722H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(TAF1C Arg722His)

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 @ chr16:84212710: 4.7% (510/10752) in EVS
  • T @ chr16:82770210: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (510/10752)




hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr16:84212710


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr16:84212710


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr16:84212710


GS10851 - var-GS10851-1100-36-ASM
het T @ chr16:82770211


GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:82770211


GS18504 - var-GS18504-1100-36-ASM
het T @ chr16:82770211


GS18508 - var-GS18508-1100-36-ASM
het T @ chr16:82770211


Other external references

  • rs4150176
    Web search results (3 hits -- see all)
  • TAF1C Gene - GeneCards | TAF1C Protein | TAF1C Antibody
    EntrezGene summary for TAF1C: Initiation of transcription by RNA polymerase I requires ... TAF1C Gene in genomic location: bands according to Ensembl, locations ...
  • 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. ...
  • Mooney Lab - MutDB
    TAF1C. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs4150176. 815. R H. NCBI. In dbsnp. None. 0.07* Synonymous Mutations. Back to top. Source ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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