CFTR c.753_754del ;(p.R251Sfs*6)

Variant ID: 7-117176606-CAG-C

NM_000492.3(CFTR):c.753_754del;(p.R251Sfs*6)

This variant was identified in 3 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: 753_754delAG; Arg251SerfsX6
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
  • jmg-2022-108501.pdf
View BVdb publication page



c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases
Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M
Publication Date: 2019-08-06

Variant appearance in text: CFTR: 753_754delAG; R251Sfs
PubMed Link: 31423445
Variant Present in the following documents:
  • Main text
  • WJCC-7-2110.pdf
View BVdb publication page