NM_001035.3(RYR2):c.12402C>A (p.Gly4134=) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002564129.10
Allele description [Variation Report for NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)]
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)
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
-
gamma-aminobutyric acid receptor subunit alpha-3 precursor [Rattus norvegicus]
gamma-aminobutyric acid receptor subunit alpha-3 precursor [Rattus norvegicus]gi|402692006|ref|NP_058765.3|Protein
-
PIN2-interacting protein 1 [Homo sapiens]
PIN2-interacting protein 1 [Homo sapiens]gi|31982867|ref|NP_060354.3|Protein
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Thenea schmidtii]
cytochrome c oxidase subunit I, partial (mitochondrion) [Thenea schmidtii]gi|2432454168|gb|WCD39148.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024