PPP1R9A c.3349C>T ;(p.Q1117*)

Variant ID: 7-94913382-C-T

NM_001166160.1(PPP1R9A):c.3349C>T;(p.Q1117*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Publication Date: 2015-10

Variant appearance in text: PPP1R9A: 3349C>T
PubMed Link: 26122175
Variant Present in the following documents:
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 10
View BVdb publication page