TTF1 A885V - 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:

TTF1 A885V

(TTF1 Ala885Val)


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

  • A @ chr9:135251366: 1.9% (201/10758) in EVS
  • A @ chr9:134241186: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (201/10758)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr9:135251366

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr9:134241187

 

Other external references
 

    dbSNP
  • rs1752676
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TTF1 gene
    Benign Hereditary Chorea
    Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distre
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTF1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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