CFTR c.1125A>C ;(p.L375F)

Variant ID: 7-117182078-A-C

NM_000492.3(CFTR):c.1125A>C;(p.L375F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: CFTR: 1125A>C; Leu375Phe; rs73215912
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 1
  • mmc5.xlsx, sheet 3
View BVdb publication page



Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs73215912
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs73215912
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1125A>C; Leu375Phe; rs73215912
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs73215912
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
Publication Date: 2016-10

Variant appearance in text: CFTR: L375F
PubMed Link: 27171515
Variant Present in the following documents:
  • Main text
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: CFTR: L375F; rs73215912
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 1
View BVdb publication page



A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

The Journal Of Molecular Diagnostics : Jmd
Faà, Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC
Publication Date: 2006-09

Variant appearance in text: CFTR: L375F
PubMed Link: 16931591
Variant Present in the following documents:
  • Main text
View BVdb publication page