TRIM31 V232I - 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:

TRIM31 V232I

(TRIM31 Val232Ile)


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 @ chr6:30078275: 11.5% (1233/10758) in EVS
  • T @ chr6:30186253: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 11.5% (1233/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:30078275

 

 

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr6:30186254

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:30186254

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr6:30186254

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr6:30186254

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr6:30186254

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr6:30186254

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr6:30186254

 

Other external references
 

    dbSNP
  • rs2523989
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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