CNGB1 c.2544dup ;(p.L849Afs*3)

Variant ID: 16-57938727-G-GC

NM_001297.4(CNGB1):c.2544dup;(p.L849Afs*3)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Publication Date: 2023

Variant appearance in text: CNGB1: 2544dup; Leu849Alafs*3
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: CNGB1: 2544dupG
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



CNGB1-related rod-cone dystrophy: A mutation review and update.

Human Mutation
Nassisi, Marco M; Smirnov, Vasily M VM; Solis Hernandez, Cyntia C; Mohand-Saïd, Saddek S; Condroyer, Christel C; Antonio, Aline A; Kühlewein, Laura L; Kempf, Melanie M; Kohl, Susanne S; Wissinger, Bernd B; Nasser, Fadi F; Ragi, Sara D SD; Wang, Nan-Kai NK; Sparrow, Janet R JR; Greenstein, Vivienne C VC; Michalakis, Stylianos S; Mahroo, Omar A OA; Ba-Abbad, Rola R; Michaelides, Michel M; Webster, Andrew R AR; Degli Esposti, Simona S; Saffren, Brooke B; Capasso, Jenina J; Levin, Alex A; Hauswirth, William W WW; Dhaenens, Claire-Marie CM; Defoort-Dhellemmes, Sabine S; Tsang, Stephen H SH; Zrenner, Eberhart E; Sahel, Jose-Alain JA; Petersen-Jones, Simon M SM; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2021-06

Variant appearance in text: CNGB1: 2544dup
PubMed Link: 33847019
Variant Present in the following documents:
  • Main text
  • HUMU-42-641.pdf
  • HUMU-42-641-s001.pdf
View BVdb publication page



Sensing through Non-Sensing Ocular Ion Channels.

International Journal Of Molecular Sciences
Kabra, Meha M; Pattnaik, Bikash Ranjan BR
Publication Date: 2020-09-21

Variant appearance in text: CNGB1: L849AfsX3
PubMed Link: 32967234
Variant Present in the following documents:
  • Main text
  • ijms-21-06925.pdf
View BVdb publication page



Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.

Eye (London, England)
Afshar, Farid F; Arno, Gavin G; Ba-Abbad, Rola R; Esposti, Simona Degli SD; Michaelides, Michel M; Webster, Andrew R AR; Mahroo, Omar A OA
Publication Date: 2020-04

Variant appearance in text: CNGB1: 2544dupG; Leu849Alafs*3
PubMed Link: 31570810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: CNGB1: 2544_2545insG; Leu849fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 18
View BVdb publication page



Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.

The Journal Of Clinical Investigation
Petersen-Jones, Simon M SM; Occelli, Laurence M LM; Winkler, Paige A PA; Lee, Winston W; Sparrow, Janet R JR; Tsukikawa, Mai M; Boye, Sanford L SL; Chiodo, Vince V; Capasso, Jenina E JE; Becirovic, Elvir E; Schön, Christian C; Seeliger, Mathias W MW; Levin, Alex V AV; Michalakis, Stylianos S; Hauswirth, William W WW; Tsang, Stephen H SH
Publication Date: 2018-01-02

Variant appearance in text: CNGB1: 2544dupG; Leu849Alafs*3
PubMed Link: 29202463
Variant Present in the following documents:
  • jci-128-95161-s001.pdf
View BVdb publication page



Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM
Publication Date: 2016-11

Variant appearance in text: CNGB1: 2544dupG
PubMed Link: 27208204
Variant Present in the following documents:
  • jmedgenet-2016-103837supp_tables.pdf
View BVdb publication page



NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Scientific Reports
Ge, Zhongqi Z; Bowles, Kristen K; Goetz, Kerry K; Scholl, Hendrik P N HP; Wang, Feng F; Wang, Xinjing X; Xu, Shan S; Wang, Keqing K; Wang, Hui H; Chen, Rui R
Publication Date: 2015-12-15

Variant appearance in text: CNGB1: 2544_2545insG; Leu849Alafs*3
PubMed Link: 26667666
Variant Present in the following documents:
  • srep18287.pdf
View BVdb publication page



Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA
Publication Date: 2015-04

Variant appearance in text: CNGB1: 2544_2545insG; Leu849Alafs
PubMed Link: 25412400
Variant Present in the following documents:
  • NIHMS639026-supplement-Supplementary_Material_-_Main_File.pdf
View BVdb publication page