CFTR c.610G>A ;(p.A204T)

Variant ID: 7-117175332-G-A

NM_000492.3(CFTR):c.610G>A;(p.A204T)

This variant was identified in 5 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: 610G>A; Ala204Thr
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: rs748026786
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Stem Cell Reports
Hildebrandt, Matthew R MR; Reuter, Miriam S MS; Wei, Wei W; Tayebi, Naeimeh N; Liu, Jiajie J; Sharmin, Sazia S; Mulder, Jaap J; Lesperance, L Stephen LS; Brauer, Patrick M PM; Mok, Rebecca S F RSF; Kinnear, Caroline C; Piekna, Alina A; Romm, Asli A; Howe, Jennifer J; Pasceri, Peter P; Meng, Guoliang G; Rozycki, Matthew M; Rodrigues, Deivid C DC; Martinez, Elisa C EC; Szego, Michael J MJ; Zúñiga-Pflücker, Juan C JC; Anderson, Michele K MK; Prescott, Steven A SA; Rosenblum, Norman D ND; Kamath, Binita M BM; Mital, Seema S; Scherer, Stephen W SW; Ellis, James J
Publication Date: 2019-12-10

Variant appearance in text: CFTR: A204T
PubMed Link: 31813827
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The genomic landscape of small cell carcinoma of the esophagus.

Cell Research
Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH
Publication Date: 2018-07

Variant appearance in text: CFTR: A204T
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
View BVdb publication page