CFTR c.558C>G ;(p.N186K)

Variant ID: 7-117174398-C-G

NM_000492.3(CFTR):c.558C>G;(p.N186K)

This variant was identified in 10 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: 558C>G; Asn186Lys
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 558C>G; Asn186Lys
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.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: 558C>G; Asn186Lys
PubMed Link: 35313924
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2279.pdf
  • 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: 558C>G
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: 558C>G
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
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: 558C>G
PubMed Link: 31423445
Variant Present in the following documents:
  • Main text
  • WJCC-7-2110.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CFTR: 558C>G; Asn186Lys
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics
Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H
Publication Date: 2019

Variant appearance in text: CFTR: 558C>G; N186K
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page



Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Orphanet Journal Of Rare Diseases
Guo, Xiaobei X; Liu, Keqiang K; Liu, Yaping Y; Situ, Yusen Y; Tian, Xinlun X; Xu, Kai-Feng KF; Zhang, Xue X
Publication Date: 2018-12-17

Variant appearance in text: CFTR: 558C>G; N186K
PubMed Link: 30558651
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_968.pdf
View BVdb publication page



Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatric Pulmonology
Zheng, Baoying B; Cao, Ling L
Publication Date: 2017-03

Variant appearance in text: CFTR: 558C>G; N186K
PubMed Link: 27717243
Variant Present in the following documents:
  • Main text
  • PPUL-52-E11.pdf
View BVdb publication page



p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation
Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X
Publication Date: 2016

Variant appearance in text: CFTR: N186K
PubMed Link: 27081564
Variant Present in the following documents:
  • Main text
  • hgv201563.pdf
View BVdb publication page