ZFHX4 I2036V - 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:

ZFHX4 I2036V

(ZFHX4 Ile2036Val)


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 @ chr8:77765398: 2.4% (236/9818) in EVS
  • G @ chr8:77927952: 5.0% (6/120) in GET-Evidence
  • Frequency shown in summary reports: 2.4% (236/9818)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:77765398

 

 

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr8:77927953

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr8:77927953

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr8:77927953

 

Other external references
 

    dbSNP
  • rs16919452
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.077 (benign)
    Web search results (3 hits -- see all)
  • ZFHX4 Gene - GeneCards | ZFHX4 Protein | ZFHX4 Antibody
    ZFHX4 Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (ZFHX4) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZFHX4
  • Zinc finger homeobox protein 4 - Homo sapiens (Human)
    A chromosomal aberration involving ZFHX4 is found in one patient with ptosis. ... homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal ...
    www.uniprot.org/uniprot/Q86UP3
  • UniProt: Q86UP3
    ... "A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal RT ... DISEASE: A chromosomal aberration involving ZFHX4 is found in one CC patient ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q86UP3

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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