ABCD1 c.707G>A ;(p.R236H)

Variant ID: X-152991428-G-A

NM_000033.3(ABCD1):c.707G>A;(p.R236H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Emerging cellular themes in leukodystrophies.

Frontiers In Cell And Developmental Biology
Nowacki, Joseph C JC; Fields, Ashley M AM; Fu, Meng Meng MM
Publication Date: 2022

Variant appearance in text: ALD: R236H
PubMed Link: 36003149
Variant Present in the following documents:
  • Main text
  • fcell-10-902261.pdf
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: ABCD1: R236H; rs201455322
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Plos Genetics
Mederer, Tanja T; Schmitteckert, Stefanie S; Volz, Julia J; Martínez, Cristina C; Röth, Ralph R; Thumberger, Thomas T; Eckstein, Volker V; Scheuerer, Jutta J; Thöni, Cornelia C; Lasitschka, Felix F; Carstensen, Leonie L; Günther, Patrick P; Holland-Cunz, Stefan S; Hofstra, Robert R; Brosens, Erwin E; Rosenfeld, Jill A JA; Schaaf, Christian P CP; Schriemer, Duco D; Ceccherini, Isabella I; Rusmini, Marta M; Tilghman, Joseph J; Luzón-Toro, Berta B; Torroglosa, Ana A; Borrego, Salud S; Sze-Man Tang, Clara C; Garcia-Barceló, Mercè M; Tam, Paul P; Paramasivam, Nagarajan N; Bewerunge-Hudler, Melanie M; De La Torre, Carolina C; Gretz, Norbert N; Rappold, Gudrun A GA; Romero, Philipp P; Niesler, Beate B
Publication Date: 2020-11

Variant appearance in text: ABCD1: 707G>A; R236H
PubMed Link: 33151932
Variant Present in the following documents:
  • pgen.1009106.s007.pdf
View BVdb publication page



A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

Jimd Reports
Morita, Masashi M; Kobayashi, Junpei J; Yamazaki, Kozue K; Kawaguchi, Kosuke K; Honda, Ayako A; Sugai, Kenji K; Shimozawa, Nobuyuki N; Koide, Reiji R; Imanaka, Tsuneo T
Publication Date: 2013

Variant appearance in text: ABCD1: R236H
PubMed Link: 23430809
Variant Present in the following documents:
  • Main text
View BVdb publication page