NM_001232.4(CASQ2):c.474C>T (p.Phe158=) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002536754.10
Allele description [Variation Report for NM_001232.4(CASQ2):c.474C>T (p.Phe158=)]
NM_001232.4(CASQ2):c.474C>T (p.Phe158=)
Condition(s)
- Name:
- Catecholaminergic polymorphic ventricular tachycardia 1
- Synonyms:
- VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
- Identifiers:
- MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772
-
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Last Updated: Oct 13, 2024