CFTR c.80G>A ;(p.G27E)

Variant ID: 7-117144333-G-A

NM_000492.3(CFTR):c.80G>A;(p.G27E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Qeretli, Raef R; Ramadan, Ali A; Al-Ibraheem, Abdullah A; Bnatig, Fahad F
Publication Date: 2022-03

Variant appearance in text: CFTR: G27E
PubMed Link: 35573065
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 80G>A; G27E
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020

Variant appearance in text: CFTR: G27E
PubMed Link: 32026723
Variant Present in the following documents:
  • 0256-4947.2020.15.pdf
View BVdb publication page