MUC16 c.16541G>T ;(p.G5514V)

Variant ID: 19-9070905-C-A

NM_024690.2(MUC16):c.16541G>T;(p.G5514V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Hgg Advances
Zhong, Guojie G; Ahimaz, Priyanka P; Edwards, Nicole A NA; Hagen, Jacob J JJ; Faure, Christophe C; Lu, Qiao Q; Kingma, Paul P; Middlesworth, William W; Khlevner, Julie J; El Fiky, Mahmoud M; Schindel, David D; Fialkowski, Elizabeth E; Kashyap, Adhish A; Forlenza, Sophia S; Kenny, Alan P AP; Zorn, Aaron M AM; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-07-14

Variant appearance in text: MUC16: 16541G>T; Gly5514Val
PubMed Link: 35519826
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page