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Variant (rsID / SNP)

rs72554056

CASQ2

rs72554056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,287,498. 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
1:116287498
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
Allele change
Synonymous_G90G

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2

Public references

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