CANT1 c.277_278del ;(p.L93Vfs*89)

Variant ID: 17-76993427-CAG-C

NM_001159773.1(CANT1):c.277_278del;(p.L93Vfs*89)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes
Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E
Publication Date: 2023-04-18

Variant appearance in text: CANT1: 277_278del; Leu93fs; rs587776897
PubMed Link: 37107695
Variant Present in the following documents:
  • genes-14-00937.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: CANT1: 277_278del; Leu93fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: CANT1: 277_278del; rs587776897
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Molecular Syndromology
Thomas, Manal M MM; Ashaat, Engy A EA; Otaify, Ghada A GA; Ismail, Samira S; Essawi, Mona L ML; Abdel-Hamid, Mohamed S MS; Hassan, Heba A HA; Alsaiedi, Sonia A SA; Aglan, Mona M; El Ruby, Mona O MO; Temtamy, Samia S
Publication Date: 2021-08

Variant appearance in text: CANT1: 277_278delCT; rs587776897
PubMed Link: 34602954
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures.

International Journal Of Clinical And Experimental Pathology
Kuang, Lele L; Liu, Bin B; Peng, Rui R; Xi, Di D; Gao, Yuping Y
Publication Date: 2020

Variant appearance in text: CANT1: 277_278delCT; L93VfsX89
PubMed Link: 32922611
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: CANT1: 277_278delCT; Leu93fs; rs587776897
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: CANT1: 277_278del; L93fs
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Human Mutation
Nizon, Mathilde M; Huber, Céline C; De Leonardis, Fabio F; Merrina, Rodolphe R; Forlino, Antonella A; Fradin, Mélanie M; Tuysuz, Beyhan B; Abu-Libdeh, Bassam Y BY; Alanay, Yasemin Y; Albrecht, Beate B; Al-Gazali, Lihadh L; Basaran, Sarenur Yilmaz SY; Clayton-Smith, Jill J; Désir, Julie J; Gill, Harinder H; Greally, Marie T MT; Koparir, Erkan E; van Maarle, Merel C MC; MacKay, Sara S; Mortier, Geert G; Morton, Jenny J; Sillence, David D; Vilain, Catheline C; Young, Ian I; Zerres, Klaus K; Le Merrer, Martine M; Munnich, Arnold A; Le Goff, Carine C; Rossi, Antonio A; Cormier-Daire, Valérie V
Publication Date: 2012-08

Variant appearance in text: CANT1: 277_278delCT; Leu93Valfs
PubMed Link: 22539336
Variant Present in the following documents:
  • Main text
  • humu0033-1261.pdf
View BVdb publication page



Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

European Journal Of Human Genetics : Ejhg
Laccone, Franco F; Schoner, Katharina K; Krabichler, Birgit B; Kluge, Britta B; Schwerdtfeger, Robin R; Schulze, Bernt B; Zschocke, Johannes J; Rehder, Helga H
Publication Date: 2011-11

Variant appearance in text: CANT1: 277_278delCT; L93VfsX89
PubMed Link: 21654728
Variant Present in the following documents:
  • Main text
View BVdb publication page