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Variant (rsID / SNP)

rs28730713

CASQ2

rs28730713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,245,571. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CASQ2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:116245571
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
Allele change
Missense_P329S

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiomyopathy

Public references

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