Variant (rsID / SNP)

rs193922625

rs193922625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,754,172. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RYR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:237754172
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
Allele change: Missense_M1347R

Associated conditions / phenotypes

Cardiomyopathy|Cardiac arrhythmia

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.