Variant (rsID / SNP)

rs121434549

rs121434549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,247,833. Clinical significance in the table: Pathogenic.

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Reference-table entries

CASQ2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:116247833
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.919G>C (p.Asp307His)
Allele change: Missense_D307H

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia 2

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.