Variant (rsID / SNP)

rs730880196

rs730880196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,337. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RYR2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:237947337
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)
Allele change: Missense_M4109V

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype

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.