SMN1 c.604_606delinsAGC ;(p.G202S)

Variant ID: 5-70238674-GGG-AGC

NM_000344.3(SMN1):c.604_606delinsAGC;(p.G202S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: SMA: G202S
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s013.xlsx, sheet 2
View BVdb publication page



Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Nature Reviews. Neuroscience
Burghes, Arthur H M AH; Beattie, Christine E CE
Publication Date: 2009-08

Variant appearance in text: SMA: G202S
PubMed Link: 19584893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.

Human Molecular Genetics
Gavrilina, Tatiana O TO; McGovern, Vicki L VL; Workman, Eileen E; Crawford, Thomas O TO; Gogliotti, Rocky G RG; DiDonato, Christine J CJ; Monani, Umrao R UR; Morris, Glenn E GE; Burghes, Arthur H M AH
Publication Date: 2008-04-15

Variant appearance in text: SMA: G202S
PubMed Link: 18178576
Variant Present in the following documents:
  • Main text
View BVdb publication page