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.

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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     
+/. 3 c.190T>C r.190u>c p.Cys64Arg - pathogenic g.38933013T>C g.38442373T>C - - RYR1_000395 not in 200 control chromosomes PubMed: Kraeva 2011 - - Germline - 0/200 BtsCI+ 0 - Natalia Kraeva
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