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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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