Variant (rsID / SNP)

rs199693714

rs199693714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,604,748. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:237604748
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
Allele change: Missense_V379M

Associated conditions / phenotypes

Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy

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.