ZNF749 A405T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ZNF749 A405T

(ZNF749 Ala405Thr)


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 @ chr19:57955729: 4.0% (430/10758) in EVS
  • A @ chr19:62647540: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (430/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr19:57955729

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr19:57955729

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr19:62647541

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr19:62647541

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr19:62647541

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:62647541

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr19:62647541

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr19:62647541

 

Other external references
 

    dbSNP
  • rs2240038
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • ZNF749 Gene - GeneCards | ZN749 Protein | ZN749 Antibody
    ZNF749 Gene in genomic location: bands according to Ensembl, locations according to (and ... ZNF749 for ontologies About GeneDecksing. Antibodies for ZNF749: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF749
  • Zinc finger protein 749 - Homo sapiens (Human)
    ZNF749. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... A T: dbSNP rs2240038. VAR_030279. Natural variant. 684. 1. I R: dbSNP ...
    www.uniprot.org/uniprot/O43361
  • UniProt: O43361
    AC O43361; DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot. DT ... DE RecName: Full=Zinc finger protein 749; GN Name=ZNF749; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O43361

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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