SMN1 c.819dup ;(p.T274Yfs*32)

Variant ID: 5-70241987-A-AT

NM_000344.3(SMN1):c.819dup;(p.T274Yfs*32)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes
Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M
Publication Date: 2022-01-24

Variant appearance in text: SMN1: T274YfsX32
PubMed Link: 35205250
Variant Present in the following documents:
  • Main text
  • genes-13-00205.pdf
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: 819_820insT
PubMed Link: 34360669
Variant Present in the following documents:
  • Main text
  • ijms-22-07896.pdf
View BVdb publication page



High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04

Variant appearance in text: SMN1: Thr274TyrfsX32
PubMed Link: 33148303
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_925.pdf
View BVdb publication page