NM_001035.3(RYR2):c.3219C>T (p.Ala1073=) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002561576.10
Allele description [Variation Report for NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)]
NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)
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
-
Mus musculus golgi coiled coil 1 (Gcc1), mRNA
Mus musculus golgi coiled coil 1 (Gcc1), mRNAgi|75991701|ref|NM_028900.2|Nucleotide
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Last Updated: Oct 20, 2024