RYR1 c.1675dup ;(p.I559Nfs*11)

Variant ID: 19-38946274-C-CA

NM_000540.2(RYR1):c.1675dup;(p.I559Nfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Bmc Pediatrics
Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X
Publication Date: 2022-01-26

Variant appearance in text: RYR1: 1675dup
PubMed Link: 35081925
Variant Present in the following documents:
  • Main text
  • 12887_2021_Article_3024.pdf
View BVdb publication page



Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Neurology. Genetics
Tian, Xia X; Liang, Wen-Chen WC; Feng, Yanming Y; Wang, Jing J; Zhang, Victor Wei VW; Chou, Chih-Hung CH; Huang, Hsien-Da HD; Lam, Ching Wan CW; Hsu, Ya-Yun YY; Lin, Thy-Sheng TS; Chen, Wan-Tzu WT; Wong, Lee-Jun LJ; Jong, Yuh-Jyh YJ
Publication Date: 2015-08

Variant appearance in text: RYR1: 1675dup; I559Nfs*11
PubMed Link: 27066551
Variant Present in the following documents:
  • NG2015000224.pdf
View BVdb publication page