PCDHA3 c.2164_2165delinsTA ;(p.R722*)

Variant ID: 5-140182946-CG-TA

NM_018906.2(PCDHA3):c.2164_2165delinsTA;(p.R722*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
Locke, Adam E AE; Steinberg, Karyn Meltz KM; Chiang, Charleston W K CWK; Service, Susan K SK; Havulinna, Aki S AS; Stell, Laurel L; Pirinen, Matti M; Abel, Haley J HJ; Chiang, Colby C CC; Fulton, Robert S RS; Jackson, Anne U AU; Kang, Chul Joo CJ; Kanchi, Krishna L KL; Koboldt, Daniel C DC; Larson, David E DE; Nelson, Joanne J; Nicholas, Thomas J TJ; Pietilä, Arto A; Ramensky, Vasily V; Ray, Debashree D; Scott, Laura J LJ; Stringham, Heather M HM; Vangipurapu, Jagadish J; Welch, Ryan R; Yajnik, Pranav P; Yin, Xianyong X; Eriksson, Johan G JG; Ala-Korpela, Mika M; Järvelin, Marjo-Riitta MR; Männikkö, Minna M; Laivuori, Hannele H; , ; Dutcher, Susan K SK; Stitziel, Nathan O NO; Wilson, Richard K RK; Hall, Ira M IM; Sabatti, Chiara C; Palotie, Aarno A; Salomaa, Veikko V; Laakso, Markku M; Ripatti, Samuli S; Boehnke, Michael M; Freimer, Nelson B NB
Publication Date: 2019-08

Variant appearance in text: PCDHA3: Arg722X
PubMed Link: 31367044
Variant Present in the following documents:
  • Main text
  • EMS83607.pdf
View BVdb publication page