Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142036299

CASQ2

rs142036299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,269,620. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CASQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:116269620
Cytoband
1p13.1
HGVS
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
Allele change
Missense_H244Y

Associated conditions / phenotypes

Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2

Public references

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