ZNF571 K593E - GET-Evidence

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

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Curation:
Currentness:

ZNF571 K593E

(ZNF571 Lys593Glu)


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

  • C @ chr19:38055553: 1.2% (131/10758) in EVS
  • C @ chr19:42747392: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (131/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr19:38055553

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr19:42747393

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr19:42747393

 

Other external references
 

    dbSNP
  • rs16973890
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)
    Web search results (3 hits -- see all)
  • Zinc finger protein 571 - Homo sapiens (Human)
    ZNF571. ORF Names: HSPC059. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... 1. K E: dbSNP rs16973890. VAR_031093. Experimental info. Sequence ...
    www.uniprot.org/uniprot/Q7Z3V5
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16973890*K593E. rs16974462 NM_033640 NP_378666. rs16974569*T761M ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • UniProt: ZN571_HUMAN
    AC Q7Z3V5; Q2HIY0; Q3ZCU3; Q9NZX7; DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot. ... finger protein 571; GN Name=ZNF571; ORFNames=HSPC059; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot+ZN571_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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