WNK4 c.1157G>A ;(p.R386H)

Variant ID: 17-40936584-G-A

NM_032387.4(WNK4):c.1157G>A;(p.R386H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in Individuals with Isolated Biliary Atresia.

Scientific Reports
Rajagopalan, Ramakrishnan R; Tsai, Ellen A EA; Grochowski, Christopher M CM; Kelly, Susan M SM; Loomes, Kathleen M KM; Spinner, Nancy B NB; Devoto, Marcella M
Publication Date: 2020-02-17

Variant appearance in text: WNK4: R386H
PubMed Link: 32066793
Variant Present in the following documents:
  • 41598_2020_59379_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: WNK4: R386H
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page