CFTR c.1572C>A ;(p.C524*)

Variant ID: 7-117199697-C-A

NM_000492.3(CFTR):c.1572C>A;(p.C524*)

This variant was identified in 25 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: 1572C>A; Cys524Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1572C>A; Cys524X
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1572C>A; C524X; rs121908754
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: C524X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: C524X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
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: rs121908754
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1572C>A
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
  • AME2-4-220.pdf
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1572C>A
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
  • AME2-4-220.pdf
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: rs121908754
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients.

Bmc Pediatrics
Chen, Qionghua Q; Shen, Yuelin Y; Xu, Hui H; Tang, Xiaolei X; Yang, Haiming H; Zhao, Shunying S
Publication Date: 2021-07-28

Variant appearance in text: CFTR: 1572C>A
PubMed Link: 34315429
Variant Present in the following documents:
  • 12887_2021_Article_2789.pdf
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: 1572C>A; Cys524Ter; rs121908754
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases
Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M
Publication Date: 2019-08-06

Variant appearance in text: CFTR: 1572C>A
PubMed Link: 31423445
Variant Present in the following documents:
  • Main text
  • WJCC-7-2110.pdf
View BVdb publication page



Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics
Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H
Publication Date: 2019

Variant appearance in text: CFTR: 1572C>A; C524X
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page



Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

The Journal Of Molecular Diagnostics : Jmd
Kerschner, Jenny L JL; Ghosh, Sujana S; Paranjapye, Alekh A; Cosme, Wilmel R WR; Audrézet, Marie-Pierre MP; Nakakuki, Miyuki M; Ishiguro, Hiroshi H; Férec, Claude C; Rommens, Johanna J; Harris, Ann A
Publication Date: 2019-01

Variant appearance in text: CFTR: C524X
PubMed Link: 30296588
Variant Present in the following documents:
  • Main text
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: rs121908754
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: CFTR: 1572C>A; Cys524Ter; rs121908754
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CFTR: 1572C>A; Cys524Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis.

International Journal Of Molecular Sciences
Drzymała-Czyż, Sławomira S; Krzyżanowska, Patrycja P; Koletzko, Berthold B; Nowak, Jan J; Miśkiewicz-Chotnicka, Anna A; Moczko, Jerzy A JA; Lisowska, Aleksandra A; Walkowiak, Jarosław J
Publication Date: 2017-01-18

Variant appearance in text: CFTR: C524X
PubMed Link: 28106773
Variant Present in the following documents:
  • Main text
  • ijms-18-00185.pdf
View BVdb publication page



Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatric Pulmonology
Zheng, Baoying B; Cao, Ling L
Publication Date: 2017-03

Variant appearance in text: CFTR: 1572C>A; Cys524X
PubMed Link: 27717243
Variant Present in the following documents:
  • Main text
  • PPUL-52-E11.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: CFTR: 1572C>A; Cys524Ter
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).

Bmc Pediatrics
Puzik, Alexander A; Morris-Rosendahl, Deborah J DJ; Rückauer, Klaus-Dieter KD; Otto, Claudia C; Gessler, Peter P; Saueressig, Ulrich U; Hentschel, Roland R
Publication Date: 2014-01-17

Variant appearance in text: CFTR: 1572C>A; Cys524*
PubMed Link: 24433235
Variant Present in the following documents:
  • Main text
  • 1471-2431-14-13.pdf
View BVdb publication page



An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Publication Date: 2013-03

Variant appearance in text: CFTR: C524X
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
View BVdb publication page



The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Journal Of Prenatal Medicine
Mesoraca, Alvaro A; Di Natale, Manuela M; Cima, Antonella A; Di Giacomo, Gianluca G; Sarti, Monica M; Barone, Maria Antonietta MA; Bizzoco, Domenico D; Cignini, Pietro P; Mobili, Luisa L; Dʼemidio, Laura L; Giorlandino, Claudio C
Publication Date: 2010-07

Variant appearance in text: CFTR: C524X
PubMed Link: 22439061
Variant Present in the following documents:
  • Main text
View BVdb publication page



The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: C524X
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of cellular networks on disease comorbidity.

Molecular Systems Biology
Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL
Publication Date: 2009

Variant appearance in text: CFTR: CYS524TER
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
View BVdb publication page



Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: CFTR: C524X
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page