FAT4 I3602L - 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:

FAT4 I3602L

(FAT4 Ile3602Leu)


You are viewing the latest version of this page, saved on November 29, 2012 at 6:39am 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

  • C @ chr4:126372975: 1.0% (106/10758) in EVS
  • Frequency shown in summary reports: 1.0% (106/10758)

Publications
 

Genomes
 

Added in this revision:

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr4:126372975

 

Other external references
 

    dbSNP
  • rs76491994
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.488 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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