CFTR c.2684G>C ;(p.S895T)

Variant ID: 7-117243612-G-C

NM_000492.3(CFTR):c.2684G>C;(p.S895T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening
Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM
Publication Date: 2021-11-02

Variant appearance in text: CFTR: 2684G>C; S895T
PubMed Link: 34842611
Variant Present in the following documents:
  • Main text
  • IJNS-07-00073.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: rs201864483
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Human Molecular Genetics
Ni, Bixian B; Lin, Yuan Y; Sun, Liangdan L; Zhu, Meng M; Li, Zheng Z; Wang, Hui H; Yu, Jun J; Guo, Xuejiang X; Zuo, Xianbo X; Dong, Jing J; Xia, Yankai Y; Wen, Yang Y; Wu, Hao H; Li, Honggang H; Zhu, Yong Y; Ping, Ping P; Chen, Xiangfeng X; Dai, Juncheng J; Jiang, Yue Y; Xu, Peng P; Du, Qiang Q; Yao, Bing B; Weng, Ning N; Lu, Hui H; Wang, Zhuqing Z; Zhu, Xiaobin X; Yang, Xiaoyu X; Xiong, Chenliang C; Ma, Hongxia H; Jin, Guangfu G; Xu, Jianfeng J; Wang, Xinru X; Zhou, Zuomin Z; Liu, Jiayin J; Zhang, Xuejun X; Conrad, Donald F DF; Hu, Zhibin Z; Sha, Jiahao J
Publication Date: 2015-10-01

Variant appearance in text: rs201864483
PubMed Link: 26199320
Variant Present in the following documents:
  • Main text
View BVdb publication page