Variant (rsID / SNP)

rs748937501

rs748937501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,995,927. 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: 1:237995927
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
Allele change: Missense_Y4962N

Associated conditions / phenotypes

Cardiomyopathy|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.