VTI1B R176H - 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:

VTI1B R176H

(VTI1B Arg176His)


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 @ chr14:68123146: 0.5% (53/10758) in EVS
  • T @ chr14:67192898: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (53/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr14:68123146

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr14:68123146

 

Other external references
 

    dbSNP
  • rs45548534
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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