ZNF749 A405T - GET-Evidence

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

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ZNF749 A405T

(ZNF749 Ala405Thr)

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

  • 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)



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

  • rs2240038
    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: ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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