CFTR c.3607A>G ;(p.I1203V)

Variant ID: 7-117267714-A-G

NM_000492.3(CFTR):c.3607A>G;(p.I1203V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs75647395
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

African Health Sciences
Hamouda, Samia S; Fredj, Sondess Hadj SH; Hilioui, Sonia S; Khalsi, Fatma F; Ameur, Salma Ben SB; Bouguila, Jihene J; Boussoffara, Raoudha R; Besbes, Habib H; Ajmi, Houda H; Mattoussi, Nadia N; Messaoud, Taieb T; Mehrezi, Ahmed A; Hachicha, Mongia M; Boughamoura, Lamia L; Sfar, Mohamed Taher MT; Gueddiche, Neji N; Abroug, Saoussen S; Becheur, Saida Ben SB; Barsaoui, Sihem S; Tebib, Neji N; Samoud, Azza A; Gandoura, Najoua N; Tinsa, Faten F; Boussetta, Khadija K
Publication Date: 2020-03

Variant appearance in text: CFTR: I1203V
PubMed Link: 33402933
Variant Present in the following documents:
  • Main text
  • AFHS2001-0444.pdf
View BVdb publication page



Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03

Variant appearance in text: CFTR: Ile1203Val
PubMed Link: 29663716
Variant Present in the following documents:
  • Main text
  • MGG3-6-134.pdf
View BVdb publication page



Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine
Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A
Publication Date: 2017-05

Variant appearance in text: CFTR: 3607A>G; Ile1203Val
PubMed Link: 28546993
Variant Present in the following documents:
  • Main text
View BVdb publication page