CFTR c.410T>C ;(p.L137P)

Variant ID: 7-117171089-T-C

NM_000492.3(CFTR):c.410T>C;(p.L137P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01

Variant appearance in text: CFTR: L137P
PubMed Link: 32357917
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_958.pdf
View BVdb publication page



Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06

Variant appearance in text: CFTR: L137P
PubMed Link: 25192979
Variant Present in the following documents:
  • Main text
View BVdb publication page