SMARCA4 c.2540A>T ;(p.Q847L)

Variant ID: 19-11130301-A-T

NM_003072.3(SMARCA4):c.2540A>T;(p.Q847L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Journal Of Genomics
Laraqui, Abdelilah A; Cavaillé, Mathias M; Uhrhammer, Nancy N; ElBiad, Oubaida O; Bidet, Yannick Y; El Rhaffouli, Hicham H; El Anaz, Hicham H; Rahali, Driss Moussaoui DM; Kouach, Jaouad J; Guelzim, Khaled K; Badaoui, Bouabid B; AlBouzidi, Abderrahman A; Oukabli, Mohammed M; Tanz, Rachid R; Sbitti, Yasser Y; Ichou, Mohammed M; Ennibi, Khaled K; Sekhsokh, Yassine Y; Bignon, Yves-Jean YJ
Publication Date: 2021

Variant appearance in text: SMARCA4: 2540A>T
PubMed Link: 34646395
Variant Present in the following documents:
  • jgenv09p0043.pdf
View BVdb publication page