CFTR c.1585-9412A>G

Variant ID: 7-117218381-A-G

NM_000492.3(CFTR):c.1585-9412A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022

Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Splicing mutations in the CFTR gene as therapeutic targets.

Gene Therapy
Deletang, Karine K; Taulan-Cadars, Magali M
Publication Date: 2022-08

Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link: 35650428
Variant Present in the following documents:
  • 41434_2022_347_MOESM2_ESM.pdf
  • 41434_2022_Article_347.pdf
View BVdb publication page



Transposon clusters as substrates for aberrant splice-site activation.

Rna Biology
Alvarez, Maria Elena Vilar MEV; Chivers, Martin M; Borovska, Ivana I; Monger, Steven S; Giannoulatou, Eleni E; Kralovicova, Jana J; Vorechovsky, Igor I
Publication Date: 2021-03

Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link: 32965162
Variant Present in the following documents:
  • KRNB_18_1805909.pdf
View BVdb publication page



Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17

Variant appearance in text: CFTR: 1585-9412A>G; rs397508229
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42404.pdf
View BVdb publication page



Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.

Plos One
Sanz, David J DJ; Hollywood, Jennifer A JA; Scallan, Martina F MF; Harrison, Patrick T PT
Publication Date: 2017

Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link: 28863137
Variant Present in the following documents:
  • Main text
  • pone.0184009.pdf
View BVdb publication page