CFTR c.662C>T ;(p.A221V)

Variant ID: 7-117175384-C-T

NM_000492.3(CFTR):c.662C>T;(p.A221V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 662C>T; A221V
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, 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: rs752432390
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess.

Annals Of Thoracic Medicine
Zahraldin, Khalid K; Janahi, Ibrahim Ahmed IA; Ben-Omran, Tawfeg T; Alsulaiman, Reem R; Hamad, Bajes B; Imam, Abubakr A
Publication Date: 2015

Variant appearance in text: CFTR: A221V
PubMed Link: 25593612
Variant Present in the following documents:
  • Main text
  • ATM-10-69.pdf
View BVdb publication page