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.

2 entries on 1 page. Showing entries 1 - 2.
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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.418G>A r.(?) p.(Ala140Thr) - likely benign g.38934430G>A g.38443790G>A RYR1(NM_000540.2):c.418G>A (p.A140T) - RYR1_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.418G>A r.(?) p.(Ala140Thr) - VUS g.38934430G>A g.38443790G>A - - RYR1_000614 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142474192 Germline - 2/2793 individuals - 0 - Mohammed Faruq
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