NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) AND Catecholaminergic polymorphic ventricular tachycardia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996768.2
Allele description [Variation Report for NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)]
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
Condition(s)
- Name:
- Catecholaminergic polymorphic ventricular tachycardia (CVPT)
- Synonyms:
- Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
- Identifiers:
- MONDO: MONDO:0017990; MedGen: C5574922; Orphanet: 3286; OMIM: PS604772
-
gnl3 [Esox lucius]
gnl3 [Esox lucius]Gene ID:105028380Gene
-
105028380[uid] AND (alive[prop]) (1)
Gene
-
Pde12 [Nannospalax galili]
Pde12 [Nannospalax galili]Gene ID:103747003Gene
-
103747003[uid] AND (alive[prop]) (1)
Gene
-
Cupriavidus pauculus strain FDAARGOS_614 chromosome 2, complete sequence
Cupriavidus pauculus strain FDAARGOS_614 chromosome 2, complete sequencegi|1526213685|ref|NZ_CP033970.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024