CFTR c.3659C>T ;(p.T1220I)

Variant ID: 7-117267766-C-T

NM_000492.3(CFTR):c.3659C>T;(p.T1220I)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: CFTR: 3659C>T; Thr1220Ile
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 3659C>T; Thr1220Ile
PubMed Link: 35858753
Variant Present in the following documents:
  • Main text
  • jmg-2022-108501supp001.pdf
  • jmg-2022-108501.pdf
View BVdb publication page



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: 3659C>T; Thr1220Ile; rs1800123
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: CFTR: T1220I
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
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: rs1800123
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: T1220I
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Turkish Journal Of Medical Sciences
Tuğ Bozdoğan, Sevcan S; Büyükkurt, Selim S; Özer, Sinem S; Bişgin, Atıl A
Publication Date: 2021-04-30

Variant appearance in text: CFTR: 3659C>T; T1220I
PubMed Link: 33197157
Variant Present in the following documents:
  • turkjmedsci-51-657.pdf
  • turkjmedsci-51-657-sup001.pdf
View BVdb publication page



Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

Bmc Medical Genetics
He, Wen-Bin WB; Tan, Yue-Qiu YQ; Hu, Xiao X; Li, Wen W; Xiong, Bo B; Luo, Ke-Li KL; Gong, Fei F; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-01-24

Variant appearance in text: CFTR: 3659C>T; Thr1220Ile
PubMed Link: 29368589
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_525.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800123
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CFTR: T1220I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine
George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R
Publication Date: 2008-01

Variant appearance in text: CFTR: T1220I; rs1800123
PubMed Link: 18716917
Variant Present in the following documents:
  • Main text
View BVdb publication page