TG R2530Q - GET-Evidence

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

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TG R2530Q

(TG Arg2530Gln)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:05pm by Genome Importing Robot.

Added in this revision:

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

  • A @ chr8:134125682: 57.2% (6158/10758) in EVS
  • A @ chr8:134194863: 55.5% (71/128) in GET-Evidence
  • Frequency shown in summary reports: 57.2% (6158/10758)



Other external references

  • Score: 0.003 (benign)
    Web search results (2 hits -- see all)
  • Type II- 99%
    ... VAR_017846 AKT (0.748) AIMAH, pituitary tumor and polyostotic fibrous dysplasia ... Polymorphism (dbSNP:rs5743673) TG P01266 R2530Q 2533 VAR_010222 RSK ...
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... F518S 523 VAR_001996 PDGFR (0.646) TG P01266 R1979W 1977 VAR_032013 PKC (0.800) ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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