RYR1 c.2113G>C ;(p.G705R)

Variant ID: 19-38948878-G-C

NM_000540.2(RYR1):c.2113G>C;(p.G705R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Acta Neuropathologica Communications
McKie, Arthur B AB; Alsaedi, Atif A; Vogt, Julie J; Stuurman, Kyra E KE; Weiss, Marjan M MM; Shakeel, Hassan H; Tee, Louise L; Morgan, Neil V NV; Nikkels, Peter G J PG; van Haaften, Gijs G; Park, Soo-Mi SM; van der Smagt, Jasper J JJ; Bugiani, Marianna M; Maher, Eamonn R ER
Publication Date: 2014-12-05

Variant appearance in text: RYR1: 2113G>C
PubMed Link: 25476234
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_148.pdf
View BVdb publication page