CFTR c.1524T>C ;(p.F508=)

Variant ID: 7-117199649-T-C

NM_000492.3(CFTR):c.1524T>C;(p.F508=)

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: rs1400451895
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zhong, Xue X; Yin, Zhijun Z; Jia, Gengjie G; Zhou, Dan D; Wei, Qiang Q; Faucon, Annika A; Evans, Patrick P; Gamazon, Eric R ER; Li, Bingshan B; Tao, Ran R; Rzhetsky, Andrey A; Bastarache, Lisa L; Cox, Nancy J NJ
Publication Date: 2020-07

Variant appearance in text: CFTR: F508=
PubMed Link: 32296164
Variant Present in the following documents:
  • Main text
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Enhancement of alveolar epithelial sodium channel activity with decreased cystic fibrosis transmembrane conductance regulator expression in mouse lung.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Lazrak, Ahmed A; Jurkuvenaite, Asta A; Chen, Lan L; Keeling, Kim M KM; Collawn, James F JF; Bedwell, David M DM; Matalon, Sadis S
Publication Date: 2011-10

Variant appearance in text: CFTR: F508=
PubMed Link: 21743028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation
Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR
Publication Date: 2008-11

Variant appearance in text: CFTR: F508f
PubMed Link: 18951463
Variant Present in the following documents:
  • Main text
View BVdb publication page