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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 2 c.(103T>C?) r.(?) p.(Cys35Arg) - pathogenic g.? - - - RYR1_000000 - PubMed: Heytens 2007 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Lynch (1997) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Lynch (1997) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.Cys35Arg - NA g.38931442T>C g.38440802T>C - - RYR1_000027 in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) European MH Group genetic testing guidelines May 2005 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.103T>C r.(?) p.(Cys35Arg) ACMG pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 ACMG PS4_M, PM1, PP1_St, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
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