CFTR c.1046C>T ;(p.A349V)

Variant ID: 7-117180330-C-T

NM_000492.3(CFTR):c.1046C>T;(p.A349V)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: A349V
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CFTR: 1046C>T; A349V; rs121909021
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: A349V
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.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: rs121909021
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange.

Scientific Reports
Lee, Jeong Hoon JH; Kweon, Solbi S; Park, Yu Rang YR
Publication Date: 2021-01-26

Variant appearance in text: rs121909021
PubMed Link: 33500538
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82006.pdf
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: CFTR: 1046C>T; A349V
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: CFTR: 1046C>T; A349V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: CFTR: A349V; rs121909021
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: Ala349Val
PubMed Link: 30046002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1046C>T; Ala349Val
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: CFTR: 1046C>T; Ala349Val; rs121909021
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Publication Date: 2014-10-10

Variant appearance in text: CFTR: A349V
PubMed Link: 25304080
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-339.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CFTR: A349V
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: CFTR: 1046C>T; A349V; rs121909021
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
View BVdb publication page



Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertility And Sterility
Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ
Publication Date: 2010-11

Variant appearance in text: CFTR: A349V
PubMed Link: 20100616
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of cellular networks on disease comorbidity.

Molecular Systems Biology
Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL
Publication Date: 2009

Variant appearance in text: CFTR: ALA349VAL
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
View BVdb publication page



Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

The Journal Of Molecular Diagnostics : Jmd
Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM
Publication Date: 2009-05

Variant appearance in text: CFTR: A349V
PubMed Link: 19324992
Variant Present in the following documents:
  • Main text
View BVdb publication page