Variant (rsID / SNP)

rs4074536

rs4074536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,310,967. Clinical significance in the table: Benign.

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Reference-table entries

CASQ2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:116310967
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)
Allele change: Missense_T66A

Associated conditions / phenotypes

Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2|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.