TTF1 G360V - 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 G360V

(TTF1 Gly360Val)


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 @ chr9:135277130: 4.8% (513/10758) in EVS
  • A @ chr9:134266950: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (513/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr9:135277130

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr9:135277130

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr9:135277130

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr9:135277130

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr9:135277130

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr9:135277130

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr9:135277130

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr9:135277130

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr9:135277130

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr9:134266951

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr9:134266951

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr9:134266951

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr9:134266951

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr9:134266951

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr9:134266951

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr9:134266951

 

Other external references
 

    dbSNP
  • rs3739915
    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
    PolyPhen-2
  • Score: 0.988 (probably damaging)
    Web search results (3 hits -- see all)
  • Type II- 95%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 AGC (0.891) PKA (0.932) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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