CFTR c.54-9790C>G

Variant ID: 7-117134517-C-G

NM_000492.3(CFTR):c.54-9790C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A
Publication Date: 2020-01

Variant appearance in text: rs4148686
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4148686
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies.

Bmc Medical Genetics
Kottgen, Anna A; Kao, Wen Hong L WH; Hwang, Shih-Jen SJ; Boerwinkle, Eric E; Yang, Qiong Q; Levy, Daniel D; Benjamin, Emelia J EJ; Larson, Martin G MG; Astor, Brad C BC; Coresh, Josef J; Fox, Caroline S CS
Publication Date: 2008-06-03

Variant appearance in text: rs4148686
PubMed Link: 18522750
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

Bmc Medical Genetics
Vasan, Ramachandran S RS; Larson, Martin G MG; Aragam, Jayashri J; Wang, Thomas J TJ; Mitchell, Gary F GF; Kathiresan, Sekar S; Newton-Cheh, Christopher C; Vita, Joseph A JA; Keyes, Michelle J MJ; O'Donnell, Christopher J CJ; Levy, Daniel D; Benjamin, Emelia J EJ
Publication Date: 2007-09-19

Variant appearance in text: rs4148686
PubMed Link: 17903301
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-S1-S2.pdf
View BVdb publication page