LRRK2 c.4827+311T>A

Variant ID: 12-40709413-T-A

NM_198578.3(LRRK2):c.4827+311T>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: LRRK2: 4827+311T>A; rs721709
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Journal Of The American Society Of Nephrology : Jasn
Weng, Patricia L PL; Sanna-Cherchi, Simone S; Hensle, Terry T; Shapiro, Ellen E; Werzberger, Alan A; Caridi, Gianluca G; Izzi, Claudia C; Konka, Anita A; Reese, Adam C AC; Cheng, Rong R; Werzberger, Samuel S; Schlussel, Richard N RN; Burk, Robert D RD; Lee, Joseph H JH; Ravazzolo, Roberto R; Scolari, Francesco F; Ghiggeri, Gian Marco GM; Glassberg, Kenneth K; Gharavi, Ali G AG
Publication Date: 2009-07

Variant appearance in text: rs721709
PubMed Link: 19443636
Variant Present in the following documents:
  • Main text
View BVdb publication page