ZNF215 S263F - GET-Evidence

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

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Curation:
Currentness:

ZNF215 S263F

(ZNF215 Ser263Phe)


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 @ chr11:6976996: 0.0% (5/10758) in EVS
  • T @ chr11:6933571: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (5/10758)

Publications
 

Genomes
 

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr11:6933572

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr11:6933572

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr11:6933572

 

Other external references
 

    dbSNP
  • rs11041115
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.429 (possibly damaging)
    Web search results (3 hits -- see all)
  • Zinc finger protein 215 - Homo sapiens (Human)
    ZNF215. Synonyms: BAZ2, ZKSCAN11. Organism. Homo sapiens (Human) [Complete proteome] ... imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. ...
    www.uniprot.org/uniprot/Q9UL58
  • ZNF215 Gene - GeneCards | ZN215 Protein | ZN215 Antibody
    ZNF215 Gene in genomic location: bands according to Ensembl, ... Enzo Life Sciences assays for ZNF215. Protein Domains/ Families. for ZNF215 gene ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215&snp=176
  • UniProt: Q9UL58
    AC Q9UL58; DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot. DT ... of a novel imprinted zinc-finger gene, ZNF215, in RT Beckwith-Wiedemann syndrome. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9UL58

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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