CFTR c.1990G>T ;(p.E664*)

Variant ID: 7-117232211-G-T

NM_000492.3(CFTR):c.1990G>T;(p.E664*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1990G>T; Glu664Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



12th ISNS European Regional Meeting Oral and Poster Abstracts.

International Journal Of Neonatal Screening
Hall, Kate K
Publication Date: 2021-10-29

Variant appearance in text: CFTR: E664X
PubMed Link: 34842605
Variant Present in the following documents:
  • IJNS-07-00071.pdf
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: E664X
PubMed Link: 32026723
Variant Present in the following documents:
  • 0256-4947.2020.15.pdf
View BVdb publication page



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: E664X
PubMed Link: 28830496
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_694.pdf
View BVdb publication page



The cystic fibrosis gene: a molecular genetic perspective.

Cold Spring Harbor Perspectives In Medicine
Tsui, Lap-Chee LC; Dorfman, Ruslan R
Publication Date: 2013-02-01

Variant appearance in text: CFTR: E664X
PubMed Link: 23378595
Variant Present in the following documents:
  • Main text
View BVdb publication page