Variant (rsID / SNP)

rs7521023

rs7521023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2, VANGL1. Location: chromosome 1, position 116,243,380. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CASQ2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:116243380
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.*482C>T
Allele change: Silent

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia|Neural tube defect|Caudal regression sequence|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.