LRRK2 R50H - 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.

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(LRRK2 Arg50His)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm 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

  • A @ chr12:40619082: 96.4% (10373/10758) in EVS
  • A @ chr12:38905348: 93.7% (118/126) in GET-Evidence
  • Frequency shown in summary reports: 96.4% (10373/10758)



Added in this revision:



Other external references

    Web search results (4 hits -- see all)
  • Exon
    R50H. G/A. rs10878245. 5. 457. L153L. C/T. rs7308720. 14. 1653. K551N. C/G ... ( B) Genotypes for SNPs in LRRK2 that flank G2019S for Jewish LRRK2 positive cases. ...
  • Table 4. Normal Allelic Variants Exon Accession Number ...
    Amino Acid. Change. Protein. Domain. 1 rs2256408. 149G>A. p.R50H N-terminal. 4 ss48398569. 356T>C ... p.G2170G. 46 rs12581902. 6782A>T. p.N2261I. WD40. 48 ss48398567. 7155A>G. p. ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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