NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) AND Arrhythmogenic right ventricular dysplasia 8
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001095186.12
Allele description [Variation Report for NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)]
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
-
cytochrome oxidase subunit I, partial (mitochondrion) [Eucidaris thouarsii]
cytochrome oxidase subunit I, partial (mitochondrion) [Eucidaris thouarsii]gi|6561104|gb|AAF16844.1|Protein
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Last Updated: Sep 16, 2024