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Variant (rsID / SNP)

rs146664754

CASQ2

rs146664754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,275,561. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CASQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:116275561
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
Allele change
Missense_F189L

Associated conditions / phenotypes

Polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Cardiomyopathy|Sudden unexplained death|Catecholaminergic polymorphic ventricular tachycardia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.