CFTR c.53+6200G>A

Variant ID: 7-117126401-G-A

NM_000492.3(CFTR):c.53+6200G>A

This variant was identified in 3 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: rs2283054
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.pdf
View BVdb publication page



Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research
Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D
Publication Date: 2019-07

Variant appearance in text: rs2283054
PubMed Link: 31308818
Variant Present in the following documents:
  • Main text
  • main.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: rs2283054
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page