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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. - c.742G>C r.(?) p.(Gly248Arg) - pathogenic g.38937350G>C g.38446710G>C - - RYR1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 9 c.742G>C r.(?) p.(Gly248Arg) - pathogenic g.38937350G>C g.38446710G>C - - RYR1_000310 - PubMed: Gillies 2008 - - Germline - - - 0 - Jorge Oliveira
+/. - c.742G>C r.(?) p.(Gly248Arg) ACMG pathogenic g.38937350G>C g.38446710G>C - - RYR1_000310 ACMG PS1, PS3_M, PS4_M, PM1, PP1_M, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
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