WT1 T274Shift - 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:

WT1 T274Shift

(WT1 274delTinsShift)


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

  • None available.

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GT @ chr11:32449559

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr11:32449555

 

Other external references
 

    GeneTests
  • GeneTests records for the WT1 gene
    Wilms Tumor
    Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
    Denys-Drash Syndrome
    Diffuse Mesangial Sclerosis Syndromes (DMS)
    Frasier Syndrome
    Isolated Diffuse Mesangial Sclerosis
    WT1-Related Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WT1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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