CFTR c.958T>G ;(p.L320V)

Variant ID: 7-117180242-T-G

NM_000492.3(CFTR):c.958T>G;(p.L320V)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in the Cystic Fibrosis Registry.

Annals Of The American Thoracic Society
Thompson, Cassandra C; Middleton, Peter G PG
Publication Date: 2023-04

Variant appearance in text: CFTR: L320V
PubMed Link: 37000148
Variant Present in the following documents:
  • Main text
  • AnnalsATS.202212-1051ED.pdf
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Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Respiratory Medicine Case Reports
Tkemaladze, Tinatin T; Kvaratskhelia, Eka E; Ghughunishvili, Mariam M; Lentze, Michael J MJ; Abzianidze, Elene E; Skrahina, Volha V; Rolfs, Arndt A
Publication Date: 2022

Variant appearance in text: CFTR: L320V
PubMed Link: 36238659
Variant Present in the following documents:
  • Main text
  • main.pdf
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: L320V
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: rs144476686
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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: 958T>G; Leu320Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine
Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A
Publication Date: 2017-05

Variant appearance in text: CFTR: 958T>G; Leu320Val
PubMed Link: 28546993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Beta-Adrenergic Sweat Responses in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome Children.

Pediatric Allergy, Immunology, And Pulmonology
Salinas, Danieli Barino DB; Kang, Lucia L; Azen, Colleen C; Quinton, Paul P
Publication Date: 2017-03-01

Variant appearance in text: CFTR: L320V
PubMed Link: 28465863
Variant Present in the following documents:
  • Main text
  • ped.2016.0662.pdf
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: CFTR: 958T>G; L320V
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: CFTR: L320V
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Plos One
Salinas, Danieli B DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M
Publication Date: 2016

Variant appearance in text: CFTR: L320V
PubMed Link: 27214204
Variant Present in the following documents:
  • Main text
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: 958T>G; L320V
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Publication Date: 2013

Variant appearance in text: CFTR: L320V
PubMed Link: 23951356
Variant Present in the following documents:
  • pone.0073522.s001.xls, sheet 1
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: L320V
PubMed Link: 19324992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd
Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C
Publication Date: 2008-09

Variant appearance in text: CFTR: L320V
PubMed Link: 18687795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A
Publication Date: 2005-05

Variant appearance in text: CFTR: L320V
PubMed Link: 15858154
Variant Present in the following documents:
  • Main text
View BVdb publication page