Variant (rsID / SNP)

rs148057999

rs148057999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,280,874. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CASQ2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:116280874
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
Allele change: Missense_I168T

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.