RYR1 c.6029del ;(p.L2010Cfs*37)

Variant ID: 19-38981272-AT-A

NM_000540.2(RYR1):c.6029del;(p.L2010Cfs*37)

This variant was identified in 1 publication

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: 6029del
PubMed Link: 35081925
Variant Present in the following documents:
  • 12887_2021_Article_3024.pdf
View BVdb publication page