CFTR c.1438G>A ;(p.G480S)

Variant ID: 7-117199563-G-A

NM_000492.3(CFTR):c.1438G>A;(p.G480S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs79282516
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A two-center analysis of hyperpolarized 129Xe lung MRI in stable pediatric cystic fibrosis: Potential as a biomarker for multi-site trials.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Couch, Marcus J MJ; Thomen, Robert R; Kanhere, Nikhil N; Hu, Raymond R; Ratjen, Felix F; Woods, Jason J; Santyr, Giles G
Publication Date: 2019-09

Variant appearance in text: CFTR: G480S
PubMed Link: 30922812
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: CFTR: G480S
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page



Testing gene therapy vectors in human primary nasal epithelial cultures.

Molecular Therapy. Methods & Clinical Development
Cao, Huibi H; Ouyang, Hong H; Ip, Wan W; Du, Kai K; Duan, Wenming W; Avolio, Julie J; Wu, Jing J; Duan, Cathleen C; Yeger, Herman H; Bear, Christine E CE; Gonska, Tanja T; Hu, Jim J; Moraes, Theo J TJ
Publication Date: 2015

Variant appearance in text: CFTR: G480S
PubMed Link: 26730394
Variant Present in the following documents:
  • Main text
  • mtm201534.pdf
View BVdb publication page