LONP1 c.1773G>C ;(p.E591D)

Variant ID: 19-5696681-C-G

NM_004793.3(LONP1):c.1773G>C;(p.E591D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Qiao, Lu L; Wynn, Julia J; Yu, Lan L; Hernan, Rebecca R; Zhou, Xueya X; Duron, Vincent V; Aspelund, Gudrun G; Farkouh-Karoleski, Christiana C; Zygumunt, Annette A; Krishnan, Usha S US; Nees, Shannon S; Khlevner, Julie J; Lim, Foong Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa Ellen ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; Soffer, Samuel S; Schindel, David D; McCulley, David J DJ; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2020-12

Variant appearance in text: LONP1: 1773G>C; E591D
PubMed Link: 32719394
Variant Present in the following documents:
  • NIHMS1619686-supplement-Supplementary_tables.xlsx, sheet 3
View BVdb publication page