TGFBR1 G174V - 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.

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Curation:
Currentness:

TGFBR1 G174V

(TGFBR1 Gly174Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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
 

Other external references
 

    GeneTests
  • GeneTests records for the TGFBR1 gene
    Thoracic Aortic Aneurysms and Aortic Dissections
    Furlong Syndrome
    Loeys-Dietz Syndrome
    TGFBR1-Related Loeys-Dietz Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBR1
    PolyPhen-2
  • Score: 0.286 (possibly damaging)
    Web search results (1 hit -- see all)
  • OMIM: 190181
    Two major TGFBR1 haplotypes are predominant among ASE cases, which suggested ... 3 of the TGFBR1 gene, resulting in a gly174-to-val (G174V) substitution in the ...
    www.genome.jp/dbget-bin/www_bget?omim+190181

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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