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Variant (rsID / SNP)

rs139228801

CASQ2

rs139228801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,247,829. 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
1:116247829
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)
Allele change
Missense_P308L

Associated conditions / phenotypes

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.