TTF1 A290S - 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 A290S

(TTF1 Ala290Ser)


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 @ chr9:135277341: 8.9% (954/10758) in EVS
  • A @ chr9:134267161: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 8.9% (954/10758)

Publications
 

Genomes
 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr9:135277341

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr9:135277341

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr9:135277341

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr9:135277341

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr9:134267162

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr9:134267162

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr9:134267162

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr9:134267162

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr9:134267162

 

Other external references
 

    dbSNP
  • rs8999
    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 (1 hit -- see all)
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
    icr.ac.uk/research/research_sections/.../2842.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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