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     
+/. 91 c.1280_1281dup r.1280_1281dup p.Ala4268Argfs*74 - pathogenic g.38943494_38943495dup g.38452854_38452855dup 1281_1282insCG - RYR1_000325 low expression at mRNA level PubMed: Monnier 2008 - - Germline - - - 0 - Jorge Oliveira
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