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Variant (rsID / SNP)

rs28730716

CASQ2

rs28730716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,269,619. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CASQ2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:116269619
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
Allele change
Missense_H244R

Associated conditions / phenotypes

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

Public references

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