All variants in the RYR1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000540.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 8 c.652G>A r.(?) p.(Val218Ile) - pathogenic g.38937132G>A g.38446492G>A - - RYR1_000225 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.652G>A r.(?) p.(Val218Ile) - pathogenic g.38937132G>A g.38446492G>A - - RYR1_000225 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query