CFTR c.4040G>C ;(p.S1347T)

Variant ID: 7-117304818-G-C

NM_000492.3(CFTR):c.4040G>C;(p.S1347T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel.

The Journal Of General Physiology
Tsai, Ming-Feng MF; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-05

Variant appearance in text: CFTR: S1347T
PubMed Link: 20421370
Variant Present in the following documents:
  • Main text
  • JGP_201010399.pdf
View BVdb publication page



Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV
Publication Date: 2009-05

Variant appearance in text: CFTR: 4040G>C
PubMed Link: 19359498
Variant Present in the following documents:
  • Main text
View BVdb publication page