TGFBI R496G - 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:

TGFBI R496G

(TGFBI Arg496Gly)


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

  • G @ chr5:135391444: 0.6% (59/9818) in EVS
  • G @ chr5:135419342: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (59/9818)

Publications
 

Genomes
 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr5:135419343

 

Other external references
 

    dbSNP
  • rs10057190
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TGFBI gene
    Avellino Corneal Dystrophy
    Corneal Dystrophy of Bowman Layer, Type 1
    Lattice Corneal Dystrophy Type I
    Lattice Corneal Dystrophy Type IIIa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBI
    PolyPhen-2
  • Score: 0.951 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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