TRIM64 E242V - 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:

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TRIM64 E242V

(TRIM64 Glu242Val)


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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
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr11:89703632

 

Added in this revision:

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr11:89703632

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr11:89703632

 

NA19240

 

Other external references
 

    dbSNP
  • rs79666078
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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