Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200105499

RYR2

rs200105499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,813,283. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RYR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:237813283
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
Allele change
Missense_H2540R

Associated conditions / phenotypes

Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy

Public references

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