Variant (rsID / SNP)

rs121918606

rs121918606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,982,481. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:237982481
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly)
Allele change: Missense_A4860G

Associated conditions / phenotypes

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

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.