RYR1 c.2097_2123del ;(p.E699_G707del)

Variant ID: 19-38948855-CCGGCGAGGGCTGGGGCGGCAACGGGGT-C

NM_000540.2(RYR1):c.2097_2123del;(p.E699_G707del)

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:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: RYR1: 2092_2118del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


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: 2097_2123del
PubMed Link: 25476234
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_148.pdf
View BVdb publication page