CFTR c.2490_2490+1insT ;(p.E831*)

Variant ID: 7-117232711-G-GT

NM_000492.3(CFTR):c.2490_2490+1insT;(p.E831*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.

Annals Of Thoracic Medicine
Chami, Hassan H; Arbid, Samer Abou SA; Badra, Rebecca R; Farra, Chantal C
Publication Date: 2017

Variant appearance in text: CFTR: 2490insT
PubMed Link: 29118863
Variant Present in the following documents:
  • Main text
  • ATM-12-290.pdf
View BVdb publication page