PDE6B c.892C>T ;(p.Q298*)

Variant ID: 4-647908-C-T

NM_000283.3(PDE6B):c.892C>T;(p.Q298*)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: PDE6B: 892C>T; Gln298Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: PDE6B: 892C>T; Gln298*
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes
Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD
Publication Date: 2022-12-26

Variant appearance in text: PDE6B: 892C>T; Gln298*
PubMed Link: 36672815
Variant Present in the following documents:
  • genes-14-00074.pdf
View BVdb publication page



Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration.

Cold Spring Harbor Molecular Case Studies
Sangermano, Riccardo R; Biswas, Pooja P; Sullivan, Lori S LS; Place, Emily E; Borooah, Shyamanga S; Straubhaar, Juerg J; Pierce, Eric A EA; Daiger, Stephen P SP; Bujakowska, Kinga M KM; Ayaggari, Radha R
Publication Date: 2022-11-14

Variant appearance in text: PDE6B: 892C>T; Gln298*
PubMed Link: 36376065
Variant Present in the following documents:
  • supp_mcs.a006247_Supplemental_Tables.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: PDE6B: Q298X; rs121918579
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: PDE6B: Q298*
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: PDE6B: Q298*
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: PDE6B: Q298X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM
Publication Date: 2020-06

Variant appearance in text: PDE6B: 892C>T; Gln298Ter
PubMed Link: 32037395
Variant Present in the following documents:
  • 41436_2020_759_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PDE6B: 892C>T; Gln298*; rs121918579
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa.

Frontiers In Genetics
Mittal, Rahul R; Bencie, Nicole N; Parrish, James M JM; Liu, George G; Mittal, Jeenu J; Yan, Denise D; Liu, Xue Zhong XZ
Publication Date: 2018

Variant appearance in text: PDE6B: Gln298Ter; rs121918579
PubMed Link: 29472945
Variant Present in the following documents:
  • Main text
  • fgene-09-00009.pdf
View BVdb publication page



The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes
Comander, Jason J; Weigel-DiFranco, Carol C; Maher, Matthew M; Place, Emily E; Wan, Aliete A; Harper, Shyana S; Sandberg, Michael A MA; Navarro-Gomez, Daniel D; Pierce, Eric A EA
Publication Date: 2017-10-05

Variant appearance in text: PDE6B: 892C>T; Gln298*
PubMed Link: 28981474
Variant Present in the following documents:
  • Main text
  • genes-08-00256.pdf
  • genes-08-00256-s001.xlsx, sheet 1
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: PDE6B: 892C>T; Gln298Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Human Genome Variation
Ullah, Inayat I; Kabir, Firoz F; Gottsch, Clare Brooks S CB; Naeem, Muhammad Asif MA; Guru, Aditya A AA; Ayyagari, Radha R; Khan, Shaheen N SN; Riazuddin, Sheikh S; Akram, Javed J; Riazuddin, S Amer SA
Publication Date: 2016

Variant appearance in text: PDE6B: 892C>T; Gln298*
PubMed Link: 27917291
Variant Present in the following documents:
  • hgv201636-s1.pdf
View BVdb publication page



Novel mutations in PDE6B causing human retinitis pigmentosa.

International Journal Of Ophthalmology
Cheng, Lu-Lu LL; Han, Ru-Yi RY; Yang, Fa-Yu FY; Yu, Xin-Ping XP; Xu, Jin-Ling JL; Min, Qing-Jie QJ; Tian, Jie J; Ge, Xiang-Lian XL; Zheng, Si-Si SS; Lin, Ye-Wen YW; Zheng, Yi-Han YH; Qu, Jia J; Gu, Feng F
Publication Date: 2016

Variant appearance in text: PDE6B: 892C>T; Q298X
PubMed Link: 27588261
Variant Present in the following documents:
  • Main text
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: PDE6B: 892C>T; Gln298*
PubMed Link: 26667666
Variant Present in the following documents:
  • srep18287.pdf
View BVdb publication page



Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.

Ophthalmic Genetics
Shen, Sherry S; Sujirakul, Tharikarn T; Tsang, Stephen H SH
Publication Date: 2014-09

Variant appearance in text: PDE6B: Q298X
PubMed Link: 24828262
Variant Present in the following documents:
  • Main text
View BVdb publication page



A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

Plos One
Manes, Gaël G; Cheguru, Pallavi P; Majumder, Anurima A; Bocquet, Béatrice B; Sénéchal, Audrey A; Artemyev, Nikolai O NO; Hamel, Christian P CP; Brabet, Philippe P
Publication Date: 2014

Variant appearance in text: PDE6B: Gln298*
PubMed Link: 24760071
Variant Present in the following documents:
  • Main text
  • pone.0095768.pdf
View BVdb publication page



Next-generation genetic testing for retinitis pigmentosa.

Human Mutation
Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H
Publication Date: 2012-06

Variant appearance in text: PDE6B: 892C>T
PubMed Link: 22334370
Variant Present in the following documents:
  • Main text
  • humu0033-0963-sd1.pdf
  • humu0033-0963.pdf
View BVdb publication page