CFTR c.1456G>T ;(p.G486*)

Variant ID: 7-117199581-G-T

NM_000492.3(CFTR):c.1456G>T;(p.G486*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1456G>T; Gly486X
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Wang, Mei-Juan MJ; Zhong, Xue-Mei XM; Ma, Xin X; Ning, Hui-Juan HJ; Zhu, Dan D; Gong, You-Zhe YZ; Jin, Meng M
Publication Date: 2021-01

Variant appearance in text: CFTR: 1456G>T; G486X
PubMed Link: 33476544
Variant Present in the following documents:
  • Main text
View BVdb publication page