CFTR c.2012del ;(p.L671*)

Variant ID: 7-117232231-AT-A

NM_000492.3(CFTR):c.2012del;(p.L671*)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27

Variant appearance in text: CFTR: 2012delT; Leu671Ter; rs121908812
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 2012del
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)
Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L
Publication Date: 2022-11-21

Variant appearance in text: CFTR: 2012delT; Leu671Ter
PubMed Link: 36428953
Variant Present in the following documents:
  • diagnostics-12-02893.pdf
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 2012delT
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.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: 2012delT
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Clinical complications in children with false-negative results in cystic fibrosis newborn screening.

Jornal De Pediatria
Zybert, Katarzyna K; Borawska-Kowalczyk, Urszula U; Wozniacki, Lukasz L; Dawidziuk, Malwina M; Ołtarzewski, Mariusz M; Sands, Dorota D
Publication Date: 2022

Variant appearance in text: CFTR: 2012delT
PubMed Link: 34953776
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics
Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R
Publication Date: 2021

Variant appearance in text: CFTR: 2012delT; Leu671X
PubMed Link: 34220950
Variant Present in the following documents:
  • Main text
  • fgene-12-678374.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 2012delT; Leu671Ter
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Publication Date: 2020-09-27

Variant appearance in text: CFTR: 2012delT; Leu671X
PubMed Link: 32992607
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 2012delT; Leu671*; rs121908812
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2012delT
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
  • genes-11-00554.pdf
View BVdb publication page



Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Publication Date: 2019-03-21

Variant appearance in text: CFTR: 2012delT; Leu671X
PubMed Link: 30898088
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_785.pdf
View BVdb publication page



Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics
Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K
Publication Date: 2018-02-13

Variant appearance in text: CFTR: 2012delT
PubMed Link: 29504914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.

Bmc Genomics
Ivády, Gergely G; Madar, László L; Dzsudzsák, Erika E; Koczok, Katalin K; Kappelmayer, János J; Krulisova, Veronika V; Macek, Milan M; Horváth, Attila A; Balogh, István I
Publication Date: 2018-02-21

Variant appearance in text: CFTR: 2012delT
PubMed Link: 29466940
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_4544.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CFTR: 2012delT; Leu671Terfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry
Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I
Publication Date: 2015-01

Variant appearance in text: CFTR: 2012delT
PubMed Link: 28356823
Variant Present in the following documents:
  • Main text
  • jomb-2014-0055.pdf
View BVdb publication page



Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Iranian Biomedical Journal
Mohseni, Marzieh M; Razzaghmanesh, Mohammad M; Parsi Mehr, Elham E; Zare, Hanieh H; Beheshtian, Maryam M; Najmabadi, Hossein H
Publication Date: 2016-09

Variant appearance in text: CFTR: 2012delT
PubMed Link: 27017198
Variant Present in the following documents:
  • IBJ-20-201.pdf
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 2012delT; Leu671*
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: 2012delT; Leu671*
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: 2012delT
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 2012delT; L671X
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
  • pone.0089094.pdf
View BVdb publication page



Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: CFTR: 2012delT; Leu671X; rs121908812
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
View BVdb publication page



The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: 2011delT
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation
Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR
Publication Date: 2008-11

Variant appearance in text: CFTR: 2011delT
PubMed Link: 18951463
Variant Present in the following documents:
  • Main text
View BVdb publication page