FAM184B R643H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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FAM184B R643H

(FAM184B Arg643His)


You are viewing an old version of this page that was saved on June 30, 2011 at 1:42am by Genome Importing Robot.

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 @ chr4:17660082: 58.8% (1900/3234) in EVS
  • Frequency shown in summary reports: 58.8% (1900/3234)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr4:17660082

 

Deleted in this revision:

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr4:17660082

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom T @ chr4:17269180

 

Other external references
 

    dbSNP
  • rs1860596
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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