Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs369466056

RYR1

rs369466056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,974,100. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RYR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:38974100
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
Allele change
Synonymous_A1626A

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.