CFTR c.54-9282G>C

Variant ID: 7-117135025-G-C

NM_000492.3(CFTR):c.54-9282G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research
Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D
Publication Date: 2019-07

Variant appearance in text: rs4148688
PubMed Link: 31308818
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4148688
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

The Journal Of Molecular Diagnostics : Jmd
FaĆ , Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC
Publication Date: 2006-09

Variant appearance in text: rs4148688
PubMed Link: 16931591
Variant Present in the following documents:
  • Main text
View BVdb publication page