SMN1 c.585dup ;(p.P196Sfs*60)

Variant ID: 5-70238654-C-CT

NM_000344.3(SMN1):c.585dup;(p.P196Sfs*60)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

International Journal Of Molecular Sciences
Butchbach, Matthew E R MER
Publication Date: 2021-07-23

Variant appearance in text: SMA: 585dupT
PubMed Link: 34360669
Variant Present in the following documents:
  • Main text
  • ijms-22-07896.pdf
View BVdb publication page



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: 585dupT
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
  • fcaa075.pdf
View BVdb publication page