NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) AND Catecholaminergic polymorphic ventricular tachycardia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003525868.2
Allele description [Variation Report for NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn)]
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn)
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
-
IZUMO1R [Mustela putorius furo]
IZUMO1R [Mustela putorius furo]Gene ID:101678569Gene
-
PIP4K2A [Odobenus rosmarus divergens]
PIP4K2A [Odobenus rosmarus divergens]Gene ID:101366625Gene
-
B4GALT7 [Leptosomus discolor]
B4GALT7 [Leptosomus discolor]Gene ID:104341468Gene
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Last Updated: Jun 23, 2024