SMN1 c.469C>T ;(p.Q157*)

Variant ID: 5-70238380-C-T

NM_000344.3(SMN1):c.469C>T;(p.Q157*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: SMN1: 469C>T; Gln157Ter
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications
Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL
Publication Date: 2020

Variant appearance in text: SMN1: 469C>T; Q157*
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
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PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY: Bergamo, ItalyJune 05-08, 2019.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Publication Date: 2019-06

Variant appearance in text: SMA: 469C>T
PubMed Link: 31309183
Variant Present in the following documents:
  • am-2019-02-45.pdf
View BVdb publication page



How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Plos One
Li, Wei W
Publication Date: 2017

Variant appearance in text: SMN1: Q157X
PubMed Link: 28570645
Variant Present in the following documents:
  • pone.0178519.s002.pdf
View BVdb publication page



Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Jama Neurology
Ripolone, Michela M; Ronchi, Dario D; Violano, Raffaella R; Vallejo, Dionis D; Fagiolari, Gigliola G; Barca, Emanuele E; Lucchini, Valeria V; Colombo, Irene I; Villa, Luisa L; Berardinelli, Angela A; Balottin, Umberto U; Morandi, Lucia L; Mora, Marina M; Bordoni, Andreina A; Fortunato, Francesco F; Corti, Stefania S; Parisi, Daniela D; Toscano, Antonio A; Sciacco, Monica M; DiMauro, Salvatore S; Comi, Giacomo P GP; Moggio, Maurizio M
Publication Date: 2015-06

Variant appearance in text: SMA: 469C>T
PubMed Link: 25844556
Variant Present in the following documents:
  • Main text
View BVdb publication page