GABRG2 c.967C>T ;(p.R323W)

Variant ID: 5-161576158-C-T

NM_198904.2(GABRG2):c.967C>T;(p.R323W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Epilepsia
Maillard, Pierre-Yves PY; Baer, Sarah S; Schaefer, Élise É; Desnous, Béatrice B; Villeneuve, Nathalie N; Lépine, Anne A; Fabre, Alexandre A; Lacoste, Caroline C; El Chehadeh, Salima S; Piton, Amélie A; Porter, Louise Frances LF; Perriard, Caroline C; Wardé, Marie-Thérèse Abi MA; Spitz, Marie-Aude MA; Laugel, Vincent V; Lesca, Gaëtan G; Putoux, Audrey A; Ville, Dorothée D; Mignot, Cyril C; Héron, Delphine D; Nabbout, Rima R; Barcia, Giulia G; Rio, Marlène M; Roubertie, Agathe A; Meyer, Pierre P; Paquis-Flucklinger, Véronique V; Patat, Olivier O; Lefranc, Jérémie J; Gerard, Marion M; , ; de Bellescize, Julietta J; Villard, Laurent L; De Saint Martin, Anne A; Milh, Mathieu M
Publication Date: 2022-10

Variant appearance in text: GABRG2: 967C>T
PubMed Link: 35718920
Variant Present in the following documents:
  • EPI-63-2519-s001.xlsx, sheet 4
  • EPI-63-2519-s001.xlsx, sheet 1
  • EPI-63-2519.pdf
View BVdb publication page



Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.

Frontiers In Molecular Neuroscience
Yang, Ying Y; Niu, Xueyang X; Cheng, Miaomiao M; Zeng, Qi Q; Deng, Jie J; Tian, Xiaojuan X; Wang, Yi Y; Yu, Jing J; Shi, Wenli W; Wu, Wenjuan W; Ma, Jiehui J; Li, Yufen Y; Yang, Xiaoling X; Zhang, Xiaoli X; Jia, Tianming T; Yang, Zhixian Z; Liao, Jianxiang J; Sun, Yan Y; Zheng, Hong H; Sun, Suzhen S; Sun, Dan D; Jiang, Yuwu Y; Zhang, Yuehua Y
Publication Date: 2022

Variant appearance in text: GABRG2: 967C>T; R323W
PubMed Link: 35359574
Variant Present in the following documents:
  • Main text
  • fnmol-15-809163.pdf
View BVdb publication page



Missense Is No Nonsense for Epileptic Encephalopathies.

Epilepsy Currents
Pirone, Antonella A; Dulla, Chris C
Publication Date: 2017

Variant appearance in text: GABRG2: R323W
PubMed Link: 28684954
Variant Present in the following documents:
  • Main text
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: GABRG2: 967C>T; Arg323Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: GABRG2: R323W
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo GABRG2 mutations associated with epileptic encephalopathies.

Brain : A Journal Of Neurology
Shen, Dingding D; Hernandez, Ciria C CC; Shen, Wangzhen W; Hu, Ningning N; Poduri, Annapurna A; Shiedley, Beth B; Rotenberg, Alex A; Datta, Alexandre N AN; Leiz, Steffen S; Patzer, Steffi S; Boor, Rainer R; Ramsey, Kerri K; Goldberg, Ethan E; Helbig, Ingo I; Ortiz-Gonzalez, Xilma R XR; Lemke, Johannes R JR; Marsh, Eric D ED; Macdonald, Robert L RL
Publication Date: 2017-01

Variant appearance in text: GABRG2: 967C>T; R323W
PubMed Link: 27864268
Variant Present in the following documents:
  • Main text
View BVdb publication page