Variant (rsID / SNP)

rs794728710

rs794728710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,551,399. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:237551399
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)
Allele change: Missense_G230D

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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