Variant (rsID / SNP)

rs375320117

rs375320117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,244,050. 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: 1:116244050
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.1015-3C>T
Allele change: Silent

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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