BRD9 A266T - 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!

Curation:
Currentness:

BRD9 A266T

(BRD9 Ala266Thr)


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 @ chr5:886744: 4.9% (526/10758) in EVS
  • Frequency shown in summary reports: 4.9% (526/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs34292369
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • BRD9 Gene - GeneCards | BRD9 Protein | BRD9 Antibody
    Regulatory transcription factor binding sites in the BRD9 gene upstream (promoter) region ... BRD9 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=BRD9
  • Bromodomain-containing protein 9 - Homo sapiens (Human)
    BRD9. ORF Names: UNQ3040/PRO9856. Organism. Homo sapiens (Human) [Complete proteome] ... "Crystal structure of human bromodomain containing 9 isoform 1 (BRD9) ...
    www.uniprot.org/uniprot/Q9H8M2
  • UniProt: Q9H8M2
    ... (SGC); RT "Crystal structure of human bromodomain containing 9 isoform 1 RT (BRD9) ... HIX0004711; -. DR HGNC; HGNC:25818; BRD9. DR HPA; HPA021465; -. DR PharmGKB; PA134866578; ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9H8M2

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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