TTF1 V303A - 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 V303A

(TTF1 Val303Ala)


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 @ chr9:135277301: 0.3% (28/10758) in EVS
  • G @ chr9:134267121: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (28/10758)

Publications
 

Genomes
 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr9:134267122

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr9:134267122

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr9:134267122

 

Other external references
 

    dbSNP
  • rs3739914
    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
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in