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Variant (rsID / SNP)

rs10801999

CASQ2

rs10801999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,310,937. 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
1:116310937
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)
Allele change
Missense_V76M

Associated conditions / phenotypes

Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|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.