CFTR c.1330A>T ;(p.I444F)

Variant ID: 7-117188815-A-T

NM_000492.3(CFTR):c.1330A>T;(p.I444F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05

Variant appearance in text: CFTR: 1330A>T; Ile444Phe
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
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: 1330A>T; Ile444Phe
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page