NM_001005242.3(PKP2):c.1170+4_1170+5del AND Arrhythmogenic right ventricular dysplasia 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002021221.4
Allele description [Variation Report for NM_001005242.3(PKP2):c.1170+4_1170+5del]
NM_001005242.3(PKP2):c.1170+4_1170+5del
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 9 (ARVD9)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic right ventricular cardiomyopathy, type 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
- Identifiers:
- MONDO: MONDO:0012180; MedGen: C1836906; OMIM: 609040
-
Chain A, SYNAPTOTAGMIN III
Chain A, SYNAPTOTAGMIN IIIgi|6980525|pdb|1DQV|AProtein
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Last Updated: Sep 29, 2024