ZNF467 A404T - 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:

ZNF467 A404T

(ZNF467 Ala404Thr)


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 @ chr7:149462381: 5.3% (429/8124) in EVS
  • T @ chr7:149093313: 2.1% (2/94) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (429/8124)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr7:149462381

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr7:149462381

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr7:149462381

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr7:149093314

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr7:149093314

 

Other external references
 

    dbSNP
  • rs112589121
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.036 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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