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.

1 entry on 1 page. Showing entry 1.
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     
-/. 2i c.270+27G>A r.(=) p.(=) - benign g.38933120G>A g.38442480G>A g.43624690A>G - RYR1_000329 - PubMed: Robinson 2006 - rs3745843 Germline - - - 0 - Johan den Dunnen
Legend   How to query