BBS2 c.401C>G ;(p.P134R)

Variant ID: 16-56545141-G-C

NM_031885.3(BBS2):c.401C>G;(p.P134R)

This variant was identified in 7 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: BBS2: 401C>G; Pro134Arg
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: BBS2: 401C>G; Pro134Arg
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases
Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2022-05-12

Variant appearance in text: BBS2: 401C>G; Pro134Arg
PubMed Link: 35551639
Variant Present in the following documents:
  • 13023_2022_2340_MOESM2_ESM.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: BBS2: P134R; rs376306240
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
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

International Journal Of Molecular Sciences
Karali, Marianthi M; Testa, Francesco F; Brunetti-Pierri, Raffaella R; Di Iorio, Valentina V; Pizzo, Mariateresa M; Melillo, Paolo P; Barillari, Maria Rosaria MR; Torella, Annalaura A; Musacchia, Francesco F; D'Angelo, Luigi L; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2019-12-20

Variant appearance in text: BBS2: 401C>G; Pro134Arg
PubMed Link: 31877679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.

Plos One
Huang, Hui H; Chen, Yanhua Y; Chen, Huishuang H; Ma, Yuanyuan Y; Chiang, Pei-Wen PW; Zhong, Jing J; Liu, Xuyang X; Asan, ; Wu, Jing J; Su, Yan Y; Li, Xin X; Deng, Jianlian J; Huang, Yingping Y; Zhang, Xinxin X; Li, Yang Y; Fan, Ning N; Wang, Ying Y; Tang, Lihui L; Shen, Jinting J; Chen, Meiyan M; Zhang, Xiuqing X; Te, Deng D; Banerjee, Santasree S; Liu, Hui H; Qi, Ming M; Yi, Xin X
Publication Date: 2018

Variant appearance in text: BBS2: 401C>G
PubMed Link: 29641573
Variant Present in the following documents:
  • Main text
  • pone.0185237.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: BBS2: P134R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page