SMN1 c.835G>A ;(p.G279S)

Variant ID: 5-70247768-G-A

NM_000344.3(SMN1):c.835G>A;(p.G279S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Rna Biology
Souček, Přemysl P; Réblová, Kamila K; Kramárek, Michal M; Radová, Lenka L; Grymová, Tereza T; Hujová, Pavla P; Kováčová, Tatiana T; Lexa, Matej M; Grodecká, Lucie L; Freiberger, Tomáš T
Publication Date: 2019-10

Variant appearance in text: rs77969175
PubMed Link: 31213135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

European Journal Of Human Genetics : Ejhg
Sheng-Yuan, Zhu Z; Xiong, Fu F; Chen, Ya-Jun YJ; Yan, Ti-Zhen TZ; Zeng, Jian J; Li, Liang L; Zhang, Ya-Ni YN; Chen, Wan-Qun WQ; Bao, Xin-Hua XH; Zhang, Cheng C; Xu, Xiang-Min XM
Publication Date: 2010-09

Variant appearance in text: SMN1: 835G>A
PubMed Link: 20442745
Variant Present in the following documents:
  • Main text
View BVdb publication page