LRRK2 c.307C>A ;(p.Q103K)

Variant ID: 12-40626145-C-A

NM_198578.3(LRRK2):c.307C>A;(p.Q103K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
Publication Date: 2012-07

Variant appearance in text: LRRK2: Gln103Lys
PubMed Link: 22415848
Variant Present in the following documents:
  • Main text
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