GZF1 N190S - 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:

GZF1 N190S

(GZF1 Asn190Ser)


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

  • G @ chr20:23345589: 0.2% (20/10758) in EVS
  • G @ chr20:23293588: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (20/10758)

Publications
 

Genomes
 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr20:23293589

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr20:23293589

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr20:23293589

 

Other external references
 

    dbSNP
  • rs3810574
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.741 (possibly damaging)
    Web search results (3 hits -- see all)
  • GDNF-inducible zinc finger protein 1 - Homo sapiens (Human)
    GZF1. Synonyms: ZBTB23, ZNF336. Organism. Homo sapiens (Human) [Complete ... N S: dbSNP rs3810574. VAR_052735. Natural variant. 275. 1. Q L: dbSNP ...
    www.uniprot.org/uniprot/Q9H116
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: GZF1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=GZF1&geneid=64412
  • UniProt: Q9H116
    DT 01-MAR-2001, sequence version 1. DT 02-MAR-2010, entry version 83. DE RecName: ... containing protein 23; GN Name=GZF1; Synonyms=ZBTB23, ZNF336; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9H116

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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