NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002535983.10
Allele description [Variation Report for NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)]
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)
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
Assertion and evidence details
Last Updated: Oct 26, 2024