CFTR c.2491-586T>A

Variant ID: 7-117234398-T-A

NM_000492.3(CFTR):c.2491-586T>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

Plos Genetics
Gong, Jiafen J; Wang, Fan F; Xiao, Bowei B; Panjwani, Naim N; Lin, Fan F; Keenan, Katherine K; Avolio, Julie J; Esmaeili, Mohsen M; Zhang, Lin L; He, Gengming G; Soave, David D; Mastromatteo, Scott S; Baskurt, Zeynep Z; Kim, Sangook S; O'Neal, Wanda K WK; Polineni, Deepika D; Blackman, Scott M SM; Corvol, Harriet H; Cutting, Garry R GR; Drumm, Mitchell M; Knowles, Michael R MR; Rommens, Johanna M JM; Sun, Lei L; Strug, Lisa J LJ
Publication Date: 2019-02

Variant appearance in text: rs213972
PubMed Link: 30807572
Variant Present in the following documents:
  • Main text
  • pgen.1008007.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: rs213972
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page