ZNF516 G239S - 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:

ZNF516 G239S

(ZNF516 Gly239Ser)


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 @ chr18:74154296: 0.3% (26/10240) in EVS
  • Frequency shown in summary reports: 0.3% (26/10240)

Publications
 

Genomes
 

Other external references
 

    Web search results (3 hits -- see all)
  • Zinc finger protein 516 - Homo sapiens (Human)
    ZNF516. Synonyms: KIAA0222. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... G S: dbSNP rs12961584. VAR_052853. Hide | Top. SequencesHide. Sequence. Length. Mass (Da) ...
    www.uniprot.org/uniprot/Q92618
  • ZNF516 Gene - GeneCards | ZN516 Protein | ZN516 Antibody
    ZNF516 Gene in genomic location: bands according to Ensembl, locations according to (and ... ZNF516 for ontologies About GeneDecksing. Antibodies for ZNF516: ...
    genecards.org/cgi-bin/carddisp.pl?gene=ZNF516&...&snp=270
  • UniProt: Q92618
    AC Q92618; DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot. DT ... finger protein 516; GN Name=ZNF516; Synonyms=KIAA0222; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q92618

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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