NALCN c.2203C>T ;(p.R735*)

Variant ID: 13-101763567-G-A

NM_052867.2(NALCN):c.2203C>T;(p.R735*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: NALCN: R735X; rs757674263
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



Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Sobering, Andrew K AK; Li, Dong D; Beighley, Jennifer S JS; Carey, John C JC; Donald, Tyhiesia T; Elsea, Sarah H SH; Figueroa, Karla P KP; Gerdts, Jennifer J; Hamlet, Andre A; Mirzaa, Ghayda M GM; Nelson, Beverly B; Pulst, Stefan M SM; Smith, Janice L JL; Tassone, Flora F; Toriello, Helga V HV; Walker, Ruth H RH; Yearwood, Katherine R KR; Bhoj, Elizabeth J EJ
Publication Date: 2020-12

Variant appearance in text: NALCN: 2203C>T; Arg735*
PubMed Link: 33274544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Journal Of Clinical Medicine
Śmigiel, Robert R; Biela, Mateusz M; Szmyd, Krzysztof K; Błoch, Michal M; Szmida, Elżbieta E; Skiba, Paweł P; Walczak, Anna A; Gasperowicz, Piotr P; Kosińska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Biernacka, Anna A; Zielińska, Marzena M; Gołębiowski, Waldemar W; Jalowska, Agnieszka A; Ohia, Grażyna G; Głowska, Bożena B; Walas, Wojciech W; Królak-Olejnik, Barbara B; Krajewski, Paweł P; Sykut-Cegielska, Jolanta J; Sąsiadek, Maria M MM; Płoski, Rafał R
Publication Date: 2020-07-13

Variant appearance in text: NALCN: 2203C>T; Arg735Ter
PubMed Link: 32668698
Variant Present in the following documents:
  • Main text
  • jcm-09-02220-s001.pdf
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: NALCN: 2203C>T; Arg735*
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page