CFTR c.298C>T ;(p.L100F)

Variant ID: 7-117170977-C-T

NM_000492.3(CFTR):c.298C>T;(p.L100F)

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: 298C>T; Leu100Phe
PubMed Link: 35858753
Variant Present in the following documents:
  • Main text
  • jmg-2022-108501supp001.pdf
  • jmg-2022-108501.pdf
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 298C>T; L100F; rs375543675
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 298C>T
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 298C>T
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
View BVdb publication page