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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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