NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) AND Arrhythmogenic right ventricular dysplasia 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001918033.4
Allele description [Variation Report for NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)]
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)
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
-
cytochrome c oxidase subunit II (mitochondrion) [Puma concolor]
cytochrome c oxidase subunit II (mitochondrion) [Puma concolor]gi|364284068|ref|YP_004940591.1|Protein
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Last Updated: Sep 29, 2024