TTF2 K1134R - 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!


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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Added in this revision:

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




Other external references

  • rs41276572
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in