SMN1 c.683T>G ;(p.L228*)

Variant ID: 5-70240540-T-G

NM_000344.3(SMN1):c.683T>G;(p.L228*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

Genes
Gaweda-Walerych, Katarzyna K; Sitek, Emilia J EJ; Borczyk, Małgorzata M; Berdyński, Mariusz M; Narożańska, Ewa E; Brockhuis, Bogna B; Korostyński, Michał M; Sławek, Jarosław J; Zekanowski, Cezary C
Publication Date: 2021-11-17

Variant appearance in text: SMN1: Leu228*
PubMed Link: 34828412
Variant Present in the following documents:
  • genes-12-01806.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: Leu228X
PubMed Link: 28570645
Variant Present in the following documents:
  • pone.0178519.s002.pdf
View BVdb publication page



Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.

The Journal Of Molecular Diagnostics : Jmd
Zeng, Jian J; Lin, Yanhong Y; Yan, Aizhen A; Ke, Longfeng L; Zhu, Zhongyong Z; Lan, Fenghua F
Publication Date: 2011-01

Variant appearance in text: SMN1: L228X
PubMed Link: 21227393
Variant Present in the following documents:
  • Main text
View BVdb publication page