SMN1 c.100del ;(p.W34Gfs*6)

Variant ID: 5-70234681-AT-A

NM_000344.3(SMN1):c.100del;(p.W34Gfs*6)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SMN1: 98del; Trp34fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 100delT
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: 100delT
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
View BVdb publication page