ZC3H3 T503K - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ZC3H3 T503K

(ZC3H3 Thr503Lys)


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 @ chr8:144618480: 1.1% (122/10738) in EVS
  • Frequency shown in summary reports: 1.1% (122/10738)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs11548254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • ZC3H3 Gene - GeneCards | ZC3H3 Protein | ZC3H3 Antibody
    ZC3H3 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (ZC3H3) OriGene 29mer shRNA kit in GFP-retroviral ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H3
  • Mooney Lab - MutDB
    ZC3H3. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs11548254. 502. T K. NCBI. In dbsnp. None. Not scored. DBSNP:rs17855618. 577. R H. NCBI. In ...
    mutdb.org/cgi-bin/mutdb.pl?id=ZC3H3&geneid=23144
  • Zinc finger CCCH domain-containing protein 3 - Homo sapiens ...
    ZC3H3. Synonyms: KIAA0150, ZC3HDC3. Organism. Homo sapiens (Human) [Complete proteome] ... T K: dbSNP rs11548254. VAR_057488. Natural variant. 578. 1. R H: dbSNP rs17855618. Ref.1 ...
    www.uniprot.org/uniprot/Q8IXZ2
  • UniProt: ZC3H3_HUMAN
    DT 10-MAY-2004, sequence version 2. DT 23-MAR-2010, entry version 62. ... domain-containing protein 3; GN Name=ZC3H3; Synonyms=KIAA0150, ZC3HDC3; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot+ZC3H3_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in