CFTR c.1125A>T ;(p.L375F)

Variant ID: 7-117182078-A-T

NM_000492.3(CFTR):c.1125A>T;(p.L375F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
Publication Date: 2016-10

Variant appearance in text: CFTR: L375F
PubMed Link: 27171515
Variant Present in the following documents:
  • Main text
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: CFTR: L375F
PubMed Link: 16931591
Variant Present in the following documents:
  • Main text
View BVdb publication page