NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000157453.1
Allele description
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
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
- Identifiers:
- MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772
Assertion and evidence details
Last Updated: Dec 24, 2022