Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs367543058

RYR1

rs367543058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,010,039. 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
19:39010039
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
Allele change
Missense_C3402G

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|Central core myopathy|RYR1-Related Disorders

Public references

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