CFTR c.314T>A ;(p.I105N)

Variant ID: 7-117170993-T-A

NM_000492.3(CFTR):c.314T>A;(p.I105N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases
De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A
Publication Date: 2017-08-22

Variant appearance in text: CFTR: I105N
PubMed Link: 28830496
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_694.pdf
View BVdb publication page



Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Plos One
Salinas, Danieli B DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M
Publication Date: 2016

Variant appearance in text: CFTR: I105N
PubMed Link: 27214204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Asian Journal Of Andrology
Giuliani, Rossella R; Antonucci, Ivana I; Torrente, Isabella I; Grammatico, Paola P; Palka, Giandomenico G; Stuppia, Liborio L
Publication Date: 2010-11

Variant appearance in text: CFTR: I105N
PubMed Link: 20657600
Variant Present in the following documents:
  • Main text
View BVdb publication page