NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489049.8
Allele description [Variation Report for NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)]
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
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
- Name:
- Catecholaminergic polymorphic ventricular tachycardia 5 (CARDAR)
- Synonyms:
- Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS
- Identifiers:
- MONDO: MONDO:0014191; MedGen: C3809536; Orphanet: 3286; OMIM: 615441
Assertion and evidence details
Last Updated: May 19, 2024