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Variant (rsID / SNP)

rs148824162

CASQ2

rs148824162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,243,931. 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
1:116243931
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
Allele change
Missense_E377D

Associated conditions / phenotypes

Cardiovascular phenotype|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.