SMN1 c.662C>T ;(p.P221L)

Variant ID: 5-70240519-C-T

NM_000344.3(SMN1):c.662C>T;(p.P221L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: P221L
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
View BVdb publication page



A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

Molecular Genetics & Genomic Medicine
Kirwin, Susan M SM; Vinette, Kathy M B KM; Gonzalez, Iris L IL; Abdulwahed, Hind Al HA; Al-Sannaa, Nouriya N; Funanage, Vicky L VL
Publication Date: 2013-07

Variant appearance in text: SMA: 662C>T
PubMed Link: 24498607
Variant Present in the following documents:
  • Main text
  • mgg30001-0113.pdf
View BVdb publication page