TTF2 K1134R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TTF2 K1134R

(TTF2 Lys1134Arg)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr1:117644058: 2.2% (242/10758) in EVS
  • G @ chr1:117445580: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (242/10758)

Publications
 

Genomes
 

Added in this revision:

GS07357 - var-GS07357-1100-36-ASM
het G @ chr1:117445581

 

NA12878

 

Other external references
 

    dbSNP
  • rs41276572
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.949 (probably damaging)
    Web search results (3 hits -- see all)
  • Transcription termination factor 2 - Homo sapiens (Human)
    TTF2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... K R: dbSNP rs41276572. VAR_061235. Natural variant. 1155. 1. D H: dbSNP rs34236116. Ref.2 ...
    www.uniprot.org/uniprot/Q9UNY4
  • UniProt: Q9UNY4
    AC Q9UNY4; A8K4Q2; O75921; Q5T2K7; Q5VVU8; Q8N6I8; DT 30-AUG-2005, integrated ... AltName: Full=Lodestar homolog; GN Name=TTF2; OS Homo sapiens (Human) ...
    www.kegg.com/dbget-bin/www_bget?uniprot:Q9UNY4

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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