PLCG1 (NM_002660.3) sequence variants
(IDAA, PLC1, NCKAP3, PLC-II, PLC148, PLCgamma1)

Editor(s): Qing ZHOU   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

 

  Total According to phenotype
 
  • Per alteration type
Alteration
Alteration
  • Per location
Location
Location
  • Per country
Country
Country

 

Alteration

 

Note: These figures are freely available, however you are kindly requested to quote Infevers.
The following citation format is appropriate: Infevers: an online database for autoinflammatory mutations. Copyright. Available at https://infevers.umai-montpellier.fr/ Accessed ( 2024-12-21 ) together with the following references:

Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC1, Slofstra M4, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.
2018 - J Med Genet.

Touitou I, Milhavet F, Cuisset L.
2014 - J Dermatol Sci. 75(3):208-9.

Milhavet F, Cuisset L, Hoffman H, El-Shanti H, Slim R, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthière C, Touitou I.
Hum Mutat. 2008 Jun;29(6):803-8.

Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthière C.
2004 - Hum Mutat. 24(3):194-8.

Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I.
2003 - Nucleic Acids Res.31(1):282-5.